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- Rare developmental defect during embryogenesis ORPHA:93890
- Hydrops fetalis ORPHA:1041
- Renal or urinary tract malformation ORPHA:93545
- Non-syndromic renal or urinary tract malformation ORPHA:93546
- Multicystic dysplastic kidney ORPHA:1851
- Unilateral multicystic dysplastic kidney ORPHA:97363
- Bilateral multicystic dysplastic kidney ORPHA:97364
- Exstrophy-epispadias complex ORPHA:322
- Renal tubular dysgenesis ORPHA:3033
- Renal tubular dysgenesis due to twin-twin transfusion ORPHA:97367
- Drug-related renal tubular dysgenesis ORPHA:97368
- Renal tubular dysgenesis of genetic origin ORPHA:97369
- Medullary sponge kidney ORPHA:1309
- Oligomeganephronia ORPHA:2260
- Duplication of urethra ORPHA:237
- Congenital primary megaureter ORPHA:617
- Primary megaureter, adult-onset form ORPHA:238642
- Congenital primary megaureter, obstructed form ORPHA:238646
- Congenital primary megaureter, refluxing form ORPHA:238650
- Congenital primary megaureter, nonrefluxing and unobstructed form ORPHA:238654
- Congenital primary megaureter, refluxing and obstructed form ORPHA:544578
- Renal hypoplasia ORPHA:93101
- Renal dysplasia ORPHA:93108
- Congenital megacalycosis ORPHA:93109
- Megacystis-megaureter syndrome ORPHA:238637
- Renal agenesis ORPHA:411709
- Fetal lower urinary tract obstruction ORPHA:435365
- Prune belly syndrome ORPHA:2970
- Atresia of urethra ORPHA:105
- Posterior urethral valve ORPHA:93110
- Anterior urethral valve ORPHA:435372
- Congenital urachal anomaly ORPHA:435743
- Urachal cyst ORPHA:488
- Patent urachus ORPHA:431341
- Urachal sinus ORPHA:431344
- Urachal diverticulum ORPHA:431347
- Familial vesicoureteral reflux ORPHA:289365
- Non-syndromic supernumerary kidneys ORPHA:652528
- Syndromic renal or urinary tract malformation ORPHA:93547
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- CHARGE syndrome ORPHA:138
- 22q11.2 deletion syndrome ORPHA:567
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- Noonan syndrome ORPHA:648
- WAGR syndrome ORPHA:893
- BOR syndrome ORPHA:107
- Cat-eye syndrome ORPHA:195
- Alagille syndrome ORPHA:52
- Alagille syndrome due to 20p12 microdeletion ORPHA:261600
- Alagille syndrome due to a JAG1 point mutation ORPHA:261619
- Alagille syndrome due to a NOTCH2 point mutation ORPHA:261629
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- Meckel syndrome ORPHA:564
- Ellis Van Creveld syndrome ORPHA:289
- Trisomy 13 syndrome ORPHA:3378
- Trisomy 18 syndrome ORPHA:3380
- VACTERL/VATER association ORPHA:887
- Simpson-Golabi-Behmel syndrome ORPHA:373
- Caudal regression syndrome ORPHA:3027
- Fraser syndrome ORPHA:2052
- Hajdu-Cheney syndrome ORPHA:955
- Acrorenal syndrome ORPHA:971
- Aniridia-renal agenesis-psychomotor retardation syndrome ORPHA:1064
- AREDYLD syndrome ORPHA:1133
- Axial mesodermal dysplasia spectrum ORPHA:1834
- EEC syndrome ORPHA:1896
- Faciocardiorenal syndrome ORPHA:1973
- Hydrocephalus-blue sclerae-nephropathy syndrome ORPHA:2186
- Hypoparathyroidism-sensorineural deafness-renal disease syndrome ORPHA:2237
- Megacystis-microcolon-intestinal hypoperistalsis syndrome ORPHA:2241
- Fibulo-ulnar hypoplasia-renal anomalies syndrome ORPHA:2256
- Pallister-Hall syndrome ORPHA:672
- Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome ORPHA:2278
- Nephrosis-deafness-urinary tract-digital malformations syndrome ORPHA:2669
- Renal coloboma syndrome ORPHA:1475
- Neurofaciodigitorenal syndrome ORPHA:2673
- Arthrogryposis-renal dysfunction-cholestasis syndrome ORPHA:2697
- Urofacial syndrome ORPHA:2704
- Orofaciodigital syndrome type 1 ORPHA:2750
- Multicentric carpo-tarsal osteolysis with or without nephropathy ORPHA:2774
- Spastic paraplegia-nephritis-deafness syndrome ORPHA:2820
- Mayer-Rokitansky-Küster-Hauser syndrome ORPHA:3109
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 ORPHA:2578
- Mayer-Rokitansky-Küster-Hauser syndrome type 1 ORPHA:247775
- Schinzel-Giedion syndrome ORPHA:798
- Holoprosencephaly-radial heart renal anomalies syndrome ORPHA:3186
- Thomas syndrome ORPHA:3316
- Thymic-renal-anal-lung dysplasia ORPHA:3326
- Thyrocerebrorenal syndrome ORPHA:3327
- Ulbright-Hodes syndrome ORPHA:3404
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome ORPHA:1192
- Double uterus-hemivagina-renal agenesis syndrome ORPHA:3411
- Smith-Lemli-Opitz syndrome ORPHA:818
- HNF1B-related autosomal dominant tubulointerstitial kidney disease ORPHA:93111
- BNAR syndrome ORPHA:217266
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome ORPHA:439897
- Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome ORPHA:444069
- Cystic hamartoma of lung and kidney ORPHA:2111
- Radio-renal syndrome ORPHA:3015
- Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome ORPHA:500135
- Renal nutcracker syndrome ORPHA:71273
- Renal caliceal diverticuli-deafness syndrome ORPHA:2838
- Caudal duplication ORPHA:1756
- Tall stature-intellectual disability-renal anomalies syndrome ORPHA:500095
- 8q24.3 microdeletion syndrome ORPHA:508488
- Menke-Hennekam syndrome ORPHA:592574
- Congenital vertebral-cardiac-renal anomalies syndrome ORPHA:521438
- NPHP3-related Meckel-like syndrome ORPHA:3032
- SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome ORPHA:597743
- PBX1-related congenital anomalies of kidney-urinary tract syndrome ORPHA:656130
- Structural heart defects-renal anomalies syndrome ORPHA:689822
- Rare surgical cardiac disease ORPHA:97965
- Rare congenital non-syndromic heart malformation ORPHA:88991
- Rare congenital anomaly of ventricular septum ORPHA:474347
- Congenital Gerbode defect ORPHA:99095
- Congenital pericardium anomaly ORPHA:2846
- Congenital complete agenesis of pericardium ORPHA:99129
- Congenital partial agenesis of pericardium ORPHA:99130
- Pleuro-pericardial cyst ORPHA:99131
- Coronary artery congenital malformation ORPHA:1081
- Coronary arterial fistula ORPHA:2041
- Congenital coronary artery aneurysm ORPHA:95491
- Anomalous aortic origin of coronary artery ORPHA:541478
- Anomalous aortic origin of the left coronary artery ORPHA:541443
- Anomalous aortic origin of the right coronary artery ORPHA:541454
- Anomalous origin of coronary artery from the pulmonary artery ORPHA:541507
- Anomaly of the coronary ostia ORPHA:542822
- Cardiac diverticulum ORPHA:1686
- Criss-cross heart ORPHA:1461
- Univentricular cardiopathy ORPHA:95483
- Hypoplastic left heart syndrome ORPHA:2248
- Univentricular heart ORPHA:1464
- Hypoplastic right heart syndrome ORPHA:98723
- Heart position anomaly ORPHA:98716
- Heterotaxia ORPHA:450
- Dextrocardia ORPHA:1666
- Levocardia ORPHA:95854
- Right sided atrial isomerism ORPHA:97548
- Situs inversus totalis ORPHA:101063
- Situs ambiguus ORPHA:157769
- Left sided atrial isomerism ORPHA:566862
- Mesocardia ORPHA:95443
- Transposition of the great arteries and conotruncal cardiac anomaly ORPHA:98717
- Conotruncal heart malformations ORPHA:2445
- Tetralogy of Fallot ORPHA:3303
- Common arterial trunk ORPHA:3384
- Common arterial trunk with pulmonary dominance and interrupted aortic arch ORPHA:665058
- Common arterial trunk with aortic dominance ORPHA:665044
- Pulmonary valve agenesis ORPHA:982
- Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome ORPHA:99048
- Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome ORPHA:101206
- Abnormal origin of the pulmonary artery ORPHA:1138
- Isolated pulmonary artery sling ORPHA:658574
- Pulmonary artery coming from patent ductus arteriosus ORPHA:99049
- Abnormal origin of right or left pulmonary artery from the aorta ORPHA:99050
- Pulmonary atresia with ventricular septal defect ORPHA:1207
- Congenital aortopulmonary window ORPHA:2037
- Double outlet right ventricle ORPHA:3426
- Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis ORPHA:99043
- Double outlet right ventricle with subpulmonary ventricular septal defect ORPHA:99045
- Double outlet right ventricle with non-committed subpulmonary ventricular septal defect ORPHA:99046
- Double outlet right ventricle with subaortic or doubly committed ventricular septal defect ORPHA:423693
- Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy ORPHA:423712
- Double outlet left ventricle ORPHA:3427
- Aortic malformation ORPHA:98718
- Supravalvular aortic stenosis ORPHA:3193
- Aorta coarctation ORPHA:1457
- Aortic arch interruption ORPHA:2299
- Fixed subaortic stenosis ORPHA:3092
- Discrete fixed membranous subaortic stenosis ORPHA:99051
- Discrete fibromuscular subaortic stenosis ORPHA:99052
- Tunnel subaortic stenosis ORPHA:99053
- Congenital aortic valve stenosis ORPHA:3093
- Familial bicuspid aortic valve ORPHA:402075
- Middle aortic syndrome ORPHA:1456
- Quadricuspid aortic valve ORPHA:542568
- Pulmonary artery or pulmonary branch anomaly ORPHA:98719
- Pulmonary atresia-intact ventricular septum syndrome ORPHA:1208
- Pulmonary valve agenesis ORPHA:982
- Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome ORPHA:99048
- Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome ORPHA:101206
- Absence of the pulmonary artery ORPHA:980
- Congenital pulmonary valvar stenosis ORPHA:3189
- Subpulmonary stenosis ORPHA:3190
- Supravalvular pulmonary stenosis ORPHA:3192
- Valvular pulmonary stenosis ORPHA:99054
- Idiopathic pulmonary artery dilatation ORPHA:1676
- Pulmonary artery hypoplasia ORPHA:99083
- Peripheral pulmonary stenosis ORPHA:99084
- Transposition of the great arteries ORPHA:216675
- Congenitally uncorrected transposition of the great arteries ORPHA:860
- Congenitally uncorrected transposition of the great arteries with coarctation ORPHA:99042
- Isolated congenitally uncorrected transposition of the great arteries ORPHA:216718
- Congenitally uncorrected transposition of the great arteries with cardiac malformation ORPHA:216729
- Congenitally corrected transposition of the great arteries ORPHA:216694
- Atrioventricular valve anomaly ORPHA:98720
- Congenital mitral malformation ORPHA:2447
- Congenital mitral valve insufficiency and/or stenosis ORPHA:95464
- Familial mitral valve prolapse ORPHA:741
- Mitral atresia ORPHA:1205
- Congenital mitral stenosis ORPHA:99057
- Hypoplasia of the mitral valve annulus ORPHA:99058
- Congenital supravalvular mitral ring ORPHA:99059
- Congenital unguarded mitral orifice ORPHA:99060
- Accessory mitral valve tissue ORPHA:99061
- Mitral valve agenesis ORPHA:99062
- Shone complex ORPHA:99063
- Anomaly of the mitral subvalvular apparatus ORPHA:101932
- Cleft mitral valve ORPHA:95465
- Congenital tricuspid malformation ORPHA:98721
- Congenital tricuspid stenosis ORPHA:95459
- Straddling or overriding tricuspid valve ORPHA:95461
- Accessory tricuspid valve tissue ORPHA:95462
- Anomaly of the tricuspid subvalvular apparatus ORPHA:95463
- Congenital tricuspid valve dysplasia ORPHA:555874
- Ebstein malformation of the tricuspid valve ORPHA:1880
- Tricuspid atresia ORPHA:1209
- Tricuspid valve agenesis ORPHA:95457
- Atrioventricular septal defect ORPHA:98722
- Complete atrioventricular septal defect ORPHA:1329
- Complete atrioventricular septal defect without ventricular hypoplasia ORPHA:576227
- Complete atrioventricular septal defect with ventricular hypoplasia ORPHA:99067
- Complete atrioventricular septal defect-tetralogy of Fallot ORPHA:99068
- Partial atrioventricular septal defect ORPHA:1330
- Partial atrioventricular septal defect with ventricular hypoplasia ORPHA:576232
- Partial atrioventricular septal defect without ventricular hypoplasia ORPHA:576235
- Intermediate atrioventricular septal defect ORPHA:576242
- FLNA-related X-linked myxomatous valvular dysplasia ORPHA:555877
- Congenital anomaly of the great arteries ORPHA:98724
- Aortic arch defects ORPHA:1132
- Encircling double aortic arch ORPHA:99075
- Persistent fifth aortic arch ORPHA:99076
- Kommerell diverticulum ORPHA:99077
- Neuhauser anomaly ORPHA:99078
- Cervical aortic arch ORPHA:99079
- Right aortic arch ORPHA:99081
- Dysphagia lusoria ORPHA:99082
- Scimitar syndrome ORPHA:185
- Arterial duct anomaly ORPHA:95485
- Premature closure of the arterial duct ORPHA:95486
- Congenital patent ductus arteriosus aneurysm ORPHA:99072
- Familial patent arterial duct ORPHA:466729
- Aortic malformation ORPHA:98718
- Supravalvular aortic stenosis ORPHA:3193
- Aorta coarctation ORPHA:1457
- Aortic arch interruption ORPHA:2299
- Fixed subaortic stenosis ORPHA:3092
- Discrete fixed membranous subaortic stenosis ORPHA:99051
- Discrete fibromuscular subaortic stenosis ORPHA:99052
- Tunnel subaortic stenosis ORPHA:99053
- Congenital aortic valve stenosis ORPHA:3093
- Familial bicuspid aortic valve ORPHA:402075
- Middle aortic syndrome ORPHA:1456
- Quadricuspid aortic valve ORPHA:542568
- Pulmonary artery or pulmonary branch anomaly ORPHA:98719
- Pulmonary atresia-intact ventricular septum syndrome ORPHA:1208
- Pulmonary valve agenesis ORPHA:982
- Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome ORPHA:99048
- Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome ORPHA:101206
- Absence of the pulmonary artery ORPHA:980
- Congenital pulmonary valvar stenosis ORPHA:3189
- Subpulmonary stenosis ORPHA:3190
- Supravalvular pulmonary stenosis ORPHA:3192
- Valvular pulmonary stenosis ORPHA:99054
- Idiopathic pulmonary artery dilatation ORPHA:1676
- Pulmonary artery hypoplasia ORPHA:99083
- Peripheral pulmonary stenosis ORPHA:99084
- Ascending aorta anomaly ORPHA:98725
- Rare atrial defect and interatrial communication ORPHA:98727
- Interatrial communication ORPHA:1478
- Atrial septal defect, ostium secundum type ORPHA:99103
- Atrial septal defect, coronary sinus type ORPHA:99104
- Atrial septal defect, sinus venosus type ORPHA:99105
- Atrial septal defect, ostium primum type ORPHA:99106
- Triatrial heart ORPHA:1463
- Familial idiopathic dilatation of the right atrium ORPHA:1677
- Atrial appendage anomaly ORPHA:95510
- Juxtaposition of the atrial appendages ORPHA:99100
- Ectasia of the right atrial appendage ORPHA:99101
- Ectasia of the left atrial appendage ORPHA:99102
- Atrial septal aneurysm ORPHA:99107
- EPHB4-related lymphatic-related hydrops fetalis ORPHA:568065
- Congenital anomaly of the great veins ORPHA:363189
- Congenital systemic veins anomaly ORPHA:3091
- Congenital anomaly of superior vena cava ORPHA:95498
- Primary superior vena cava aneurysm ORPHA:652668
- Persistent left superior vena cava connecting through coronary sinus to left-sided atrium ORPHA:99109
- Right superior vena cava connecting to left-sided atrium ORPHA:99110
- Persistent left superior vena cava connecting to the roof of left-sided atrium ORPHA:99111
- Absence of innominate vein ORPHA:99112
- Subaortic course of innominate vein ORPHA:99113
- Agenesis of the superior vena cava ORPHA:99114
- Congenital anomaly of the inferior vena cava ORPHA:95499
- Primary inferior vena cava aneurysm ORPHA:652678
- Right inferior vena cava connecting to left-sided atrium ORPHA:99119
- Persistent eustachian valve ORPHA:99120
- Azygos continuation of the inferior vena cava ORPHA:99121
- Congenital stenosis of the inferior vena cava ORPHA:99122
- Inferior vena cava interruption without azygos continuation ORPHA:99123
- Congenital anomaly of the coronary sinus ORPHA:95500
- Congenital anomaly of hepatic vein ORPHA:95507
- Congenital portosystemic shunt ORPHA:480531
- Congenital pulmonary veins anomaly ORPHA:98729
- Ectopia cordis ORPHA:448270
- Congenital left ventricular aneurysm ORPHA:1055
- Rare syndrome with cardiac malformations ORPHA:156532
- Transketolase deficiency ORPHA:488618
- Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome ORPHA:467176
- White forelock with malformations ORPHA:2475
- CHARGE syndrome ORPHA:138
- 22q11.2 deletion syndrome ORPHA:567
- Williams syndrome ORPHA:904
- Alagille syndrome ORPHA:52
- Alagille syndrome due to 20p12 microdeletion ORPHA:261600
- Alagille syndrome due to a JAG1 point mutation ORPHA:261619
- Alagille syndrome due to a NOTCH2 point mutation ORPHA:261629
- Ellis Van Creveld syndrome ORPHA:289
- Holt-Oram syndrome ORPHA:392
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome ORPHA:1352
- Microcephaly-cardiac defect-lung malsegmentation syndrome ORPHA:2516
- TARP syndrome ORPHA:2886
- Atrial septal defect-atrioventricular conduction defects syndrome ORPHA:1479
- Thomas syndrome ORPHA:3316
- PHACE syndrome ORPHA:42775
- Bosley-Salih-Alorainy syndrome ORPHA:69737
- Brain malformation-congenital heart disease-postaxial polydactyly syndrome ORPHA:75389
- Cardiac anomalies-heterotaxy syndrome ORPHA:137628
- Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type ORPHA:217026
- Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome ORPHA:228190
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome ORPHA:228410
- 6q25.1 microdeletion syndrome ORPHA:664404
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation ORPHA:664401
- Cardiac-valvular Ehlers-Danlos syndrome ORPHA:230851
- Familial retinal arterial macroaneurysm ORPHA:284247
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency ORPHA:369891
- Congenital disorder of glycosylation with cardiac malformation as a major feature ORPHA:371183
- Peters plus syndrome ORPHA:709
- Musculocontractural Ehlers-Danlos syndrome ORPHA:2953
- CHIME syndrome ORPHA:3474
- MGAT2-CDG ORPHA:79329
- COG7-CDG ORPHA:79333
- Larsen-like syndrome, B3GAT3 type ORPHA:284139
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome ORPHA:444077
- Noonan syndrome and Noonan-related syndrome ORPHA:98733
- Noonan syndrome ORPHA:648
- Costello syndrome ORPHA:3071
- Noonan syndrome with multiple lentigines ORPHA:500
- Cardiofaciocutaneous syndrome ORPHA:1340
- Noonan syndrome-like disorder with loose anagen hair ORPHA:2701
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia ORPHA:363972
- Neurofibromatosis-Noonan syndrome ORPHA:638
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome ORPHA:453499
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion ORPHA:352665
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation ORPHA:453504
- Subaortic stenosis-short stature syndrome ORPHA:3191
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome ORPHA:457193
- TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome ORPHA:562569
- Down syndrome ORPHA:870
- Microcephaly-seizures-intellectual disability-heart disease syndrome ORPHA:2519
- Congenital vertebral-cardiac-renal anomalies syndrome ORPHA:521438
- Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome ORPHA:496693
- Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome ORPHA:508476
- 8q24.3 microdeletion syndrome ORPHA:508488
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome ORPHA:508498
- Heart defects-limb shortening syndrome ORPHA:1354
- Lethal brain and heart developmental defects ORPHA:580933
- Spondylometaphyseal dysplasia-corneal dystrophy syndrome ORPHA:589435
- TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome ORPHA:592570
- SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome ORPHA:597743
- Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome ORPHA:664438
- Neurooculocardiogenitourinary syndrome ORPHA:684305
- 2q13 microdeletion syndrome ORPHA:684742
- Turnpenny-Fry syndrome ORPHA:688642
- Structural heart defects-renal anomalies syndrome ORPHA:689822
- CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome ORPHA:646278
- Cranial malformation ORPHA:98038
- Hunter-McAlpine syndrome ORPHA:97340
- Cole-Carpenter syndrome ORPHA:2050
- Cleidocranial dysplasia ORPHA:1452
- Craniosynostosis ORPHA:1531
- Non-syndromic craniosynostosis ORPHA:139390
- Non-syndromic unisutural craniosynostosis ORPHA:620096
- Non-syndromic unicoronal craniosynostosis ORPHA:620102
- Non-syndromic unilambdoid craniosynostosis ORPHA:620113
- Non-syndromic unifrontosphenoidal craniosynostosis ORPHA:620139
- Non-syndromic unisquamosal craniosynostosis ORPHA:620146
- Non-syndromic metopic craniosynostosis ORPHA:3366
- Non-syndromic sagittal craniosynostosis ORPHA:35093
- Non-syndromic multisutural craniosynostosis ORPHA:620152
- Non-syndromic non-specific multisutural craniosynostosis ORPHA:620158
- Non-syndromic bilambdoid craniosynostosis ORPHA:620178
- Non-syndromic unicoronal and sagittal craniosynostosis ORPHA:620186
- Non-syndromic metopic and sagittal craniosynostosis ORPHA:620192
- Non-syndromic bicoronal and metopic craniosynostosis ORPHA:620198
- Non-syndromic bicoronal and sagittal craniosynostosis ORPHA:620205
- Non-syndromic pansynostosis ORPHA:620212
- Non-syndromic bicoronal craniosynostosis ORPHA:35099
- Non-syndromic bilambdoid and sagittal craniosynostosis ORPHA:1516
- Syndromic craniosynostosis ORPHA:139393
- Crouzon syndrome ORPHA:207
- C syndrome ORPHA:1308
- Apert syndrome ORPHA:87
- Antley-Bixler syndrome ORPHA:83
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis ORPHA:596008
- Baller-Gerold syndrome ORPHA:1225
- Cranioectodermal dysplasia ORPHA:1515
- Craniosynostosis, Philadelphia type ORPHA:1527
- Craniotelencephalic dysplasia ORPHA:1528
- Jackson-Weiss syndrome ORPHA:1540
- Curry-Jones syndrome ORPHA:1553
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome ORPHA:1555
- Craniosynostosis, Herrmann-Opitz type ORPHA:2145
- Holoprosencephaly-craniosynostosis syndrome ORPHA:2163
- Lowry-MacLean syndrome ORPHA:2409
- Shprintzen-Goldberg syndrome ORPHA:2462
- Cardiocranial syndrome, Pfeiffer type ORPHA:2872
- SCARF syndrome ORPHA:3134
- FGFR2-related bent bone dysplasia ORPHA:313855
- Trigonocephaly-broad thumbs syndrome ORPHA:3365
- Trigonocephaly-short stature-developmental delay syndrome ORPHA:3369
- X-linked intellectual disability-plagiocephaly syndrome ORPHA:2898
- Craniosynostosis, Boston type ORPHA:1541
- Craniomicromelic syndrome ORPHA:1524
- Craniosynostosis-intracranial calcifications syndrome ORPHA:52054
- Muenke syndrome ORPHA:53271
- Infantile hypophosphatasia ORPHA:247651
- Craniosynostosis-anal anomalies-porokeratosis syndrome ORPHA:85199
- Crouzon syndrome-acanthosis nigricans syndrome ORPHA:93262
- Cloverleaf skull-multiple congenital anomalies syndrome ORPHA:93267
- Prenatal benign hypophosphatasia ORPHA:247638
- Cloverleaf skull-asphyxiating thoracic dysplasia syndrome ORPHA:100978
- Familial scaphocephaly syndrome ORPHA:169163
- Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome ORPHA:1538
- Familial scaphocephaly syndrome, McGillivray type ORPHA:168624
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome ORPHA:171839
- Osteosclerosis-developmental delay-craniosynostosis syndrome ORPHA:178377
- Acrocephalopolydactyly ORPHA:221054
- Craniosynostosis-dental anomalies ORPHA:284149
- Lethal occipital encephalocele-skeletal dysplasia syndrome ORPHA:293925
- Childhood-onset hypophosphatasia ORPHA:247667
- 3MC syndrome ORPHA:293843
- Mucopolysaccharidosis ORPHA:79213
- Mucopolysaccharidosis type 6 ORPHA:583
- Mucopolysaccharidosis type 6, rapidly progressing ORPHA:276212
- Mucopolysaccharidosis type 6, slowly progressing ORPHA:276223
- Mucopolysaccharidosis type 7 ORPHA:584
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Mucopolysaccharidosis type 1 ORPHA:579
- Mucopolysaccharidosis type 3 ORPHA:581
- Sanfilippo syndrome type A ORPHA:79269
- Sanfilippo syndrome type B ORPHA:79270
- Sanfilippo syndrome type C ORPHA:79271
- Sanfilippo syndrome type D ORPHA:79272
- Mucopolysaccharidosis type 4 ORPHA:582
- Hyaluronidase deficiency ORPHA:67041
- Mucopolysaccharidosis type 10 ORPHA:662216
- Noonan syndrome ORPHA:648
- Osteoglosphonic dysplasia ORPHA:2645
- Williams syndrome ORPHA:904
- Radioulnar synostosis-developmental delay-hypotonia syndrome ORPHA:3270
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome ORPHA:369837
- Craniofrontonasal dysplasia ORPHA:1520
- Carpenter syndrome ORPHA:65759
- Thanatophoric dysplasia ORPHA:2655
- Pycnodysostosis ORPHA:763
- Coffin-Siris syndrome ORPHA:1465
- Acrocallosal syndrome ORPHA:36
- Dubowitz syndrome ORPHA:235
- Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome ORPHA:647681
- Craniosynostosis-microretrognathia-severe intellectual disability syndrome ORPHA:565858
- Craniosynostosis-facial dysmorphism-brachydactyly syndrome ORPHA:672979
- Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome ORPHA:672985
- KBG syndrome ORPHA:2332
- Koolen-De Vries syndrome ORPHA:96169
- 17q21.31 microdeletion syndrome ORPHA:363958
- Koolen-De Vries syndrome due to a point mutation ORPHA:363965
- Bohring-Opitz syndrome ORPHA:97297
- Fetal valproate spectrum disorder ORPHA:1906
- Pfeiffer syndrome ORPHA:710
- Pfeiffer syndrome type 1 ORPHA:93258
- Pfeiffer syndrome type 2 ORPHA:93259
- Pfeiffer syndrome type 3 ORPHA:93260
- Saethre-Chotzen syndrome ORPHA:794
- Acalvaria ORPHA:945
- Craniodiaphyseal dysplasia ORPHA:1513
- Hypomandibular faciocranial dysostosis ORPHA:1790
- Delayed membranous cranial ossification ORPHA:3034
- Enlarged parietal foramina ORPHA:60015
- Morgagni-Stewart-Morel syndrome ORPHA:77296
- Parietal foramina with clavicular hypoplasia ORPHA:251290
- Aplasia cutis congenita ORPHA:1114
- Adams-Oliver syndrome ORPHA:974
- Craniometaphyseal dysplasia ORPHA:1522
- Frontometaphyseal dysplasia ORPHA:1826
- Osteopathia striata-cranial sclerosis syndrome ORPHA:2780
- Osteocraniostenosis ORPHA:2763
- Digestive tract malformation ORPHA:98039
- Esophageal malformation ORPHA:88993
- Non-syndromic esophageal malformation ORPHA:108959
- Esophageal atresia ORPHA:1199
- Duplication of the esophagus ORPHA:91357
- Isolated esophageal duplication cyst ORPHA:100047
- Isolated tubular duplication of the esophagus ORPHA:100048
- Congenital esophageal diverticulum ORPHA:91358
- Congenital esophageal stenosis ORPHA:645749
- Laryngotracheoesophageal cleft ORPHA:2004
- Laryngotracheoesophageal cleft type 1 ORPHA:93938
- Laryngotracheoesophageal cleft type 2 ORPHA:93939
- Laryngotracheoesophageal cleft type 3 ORPHA:93940
- Laryngotracheoesophageal cleft type 4 ORPHA:93941
- Laryngotracheoesophageal cleft type 0 ORPHA:280205
- Isolated tracheoesophageal fistula ORPHA:454750
- Syndromic esophageal malformation ORPHA:108961
- Gastroduodenal malformation ORPHA:97944
- Non-syndromic gastroduodenal malformation ORPHA:108963
- Isolated gastric duplication ORPHA:662376
- Isolated pyloric duplication ORPHA:662405
- Duodenal atresia ORPHA:1203
- Congenital microgastria ORPHA:199293
- Syndromic gastroduodenal malformation ORPHA:108965
- Intestinal malformation ORPHA:97945
- Non-syndromic intestinal malformation ORPHA:108967
- Isolated multiple intestinal atresia ORPHA:2300
- Congenital short bowel syndrome ORPHA:2301
- Small bowel atresia ORPHA:1201
- Colonic atresia ORPHA:1198
- Isolated small intestine duplication ORPHA:662456
- Familial intestinal malrotation ORPHA:508410
- Isolated colonic duplication ORPHA:662392
- Duodenal atresia ORPHA:1203
- Syndromic intestinal malformation ORPHA:108969
- Rare disorder with Hirschsprung disease as a major feature ORPHA:557866
- Bardet-Biedl syndrome ORPHA:110
- Goldberg-Shprintzen megacolon syndrome ORPHA:66629
- Haddad syndrome ORPHA:99803
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease ORPHA:163746
- Waardenburg-Shah syndrome ORPHA:897
- Hirschsprung disease-type D brachydactyly syndrome ORPHA:2150
- Mowat-Wilson syndrome ORPHA:2152
- Mowat-Wilson syndrome due to monosomy 2q22 ORPHA:261537
- Mowat-Wilson syndrome due to a ZEB2 point mutation ORPHA:261552
- Hirschsprung disease-nail hypoplasia-dysmorphism syndrome ORPHA:2153
- Hirschsprung disease-deafness-polydactyly syndrome ORPHA:2155
- Marfanoid syndrome, De Silva type ORPHA:2464
- Thoraco-abdominal enteric duplication ORPHA:1759
- Umbilical cord ulceration-intestinal atresia syndrome ORPHA:3405
- Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome ORPHA:293864
- Combined immunodeficiency-multiple intestinal atresia ORPHA:436252
- Diaphragmatic hernia-short bowel-asplenia syndrome ORPHA:527468
- Stromme syndrome ORPHA:506307
- Malformation of the anal canal and the rectum ORPHA:684757
- Anorectal malformation ORPHA:96346
- Non-syndromic anorectal malformation ORPHA:557
- Non-syndromic anorectal malformation with perineal fistula ORPHA:600952
- Non-syndromic anorectal malformation with rectourethral fistula ORPHA:600961
- Non-syndromic anorectal malformation with rectourethral fistula, bulbar type ORPHA:600966
- Non-syndromic anorectal malformation with rectourethral fistula, prostatic type ORPHA:600975
- Non-syndromic anorectal malformation with rectovesical fistula ORPHA:600984
- Non-syndromic anorectal malformation with vestibular fistula ORPHA:600993
- Non-syndromic cloacal malformation ORPHA:600998
- Non-syndromic anorectal malformation without fistula ORPHA:601002
- Non-syndromic anorectal malformation with anal stenosis ORPHA:601008
- Non-syndromic anorectal malformation with pouch colon ORPHA:601013
- Non-syndromic anorectal malformation with rectal atresia ORPHA:601018
- Non-syndromic anorectal malformation with rectal stenosis ORPHA:601023
- Non-syndromic anorectal malformation with rectovaginal fistula ORPHA:601028
- Non-syndromic anorectal malformation with H-type fistula ORPHA:601033
- Syndromic anorectal malformation ORPHA:117573
- 22q11.2 deletion syndrome ORPHA:567
- Townes-Brocks syndrome ORPHA:857
- Cat-eye syndrome ORPHA:195
- Trisomy 13 syndrome ORPHA:3378
- Trisomy 18 syndrome ORPHA:3380
- Pallister-Killian syndrome ORPHA:884
- VACTERL/VATER association ORPHA:887
- Fraser syndrome ORPHA:2052
- Currarino syndrome ORPHA:1552
- Distal deletion 13q syndrome ORPHA:1590
- Baller-Gerold syndrome ORPHA:1225
- Cataract-intellectual disability-anal atresia-urinary defects syndrome ORPHA:1381
- X-linked skeletal dysplasia-intellectual disability syndrome ORPHA:1436
- Caudal duplication ORPHA:1756
- Axial mesodermal dysplasia spectrum ORPHA:1834
- Pallister-Hall syndrome ORPHA:672
- Johanson-Blizzard syndrome ORPHA:2315
- Kabuki syndrome ORPHA:2322
- Lowe-Kohn-Cohen syndrome ORPHA:2408
- Microphthalmia with linear skin defects syndrome ORPHA:2556
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 ORPHA:2578
- 46,XX difference of sex development-anorectal anomalies syndrome ORPHA:2973
- Ulnar-mammary syndrome ORPHA:3138
- VACTERL with hydrocephalus ORPHA:3412
- Opitz GBBB syndrome ORPHA:2745
- Axenfeld-Rieger syndrome ORPHA:782
- 6q terminal deletion syndrome ORPHA:75857
- LUMBAR syndrome ORPHA:83628
- Short rib-polydactyly syndrome, Verma-Naumoff type ORPHA:93271
- Okihiro syndrome ORPHA:93293
- Okihiro syndrome due to 20q13 microdeletion ORPHA:261638
- Okihiro syndrome due to a point mutation ORPHA:261647
- Cloacal exstrophy ORPHA:93929
- Ring chromosome 13 syndrome ORPHA:96176
- Maternal uniparental disomy of chromosome 16 syndrome ORPHA:96185
- Syndactyly-telecanthus-anogenital and renal malformations syndrome ORPHA:140952
- BNAR syndrome ORPHA:217266
- Caudal regression-sirenomelia spectrum ORPHA:444941
- EVEN-plus syndrome ORPHA:496751
- FG syndrome type 1 ORPHA:93932
- Down syndrome ORPHA:870
- Isolated Klippel-Feil syndrome ORPHA:2345
- Oculogastrointestinal-neurodevelopmental syndrome ORPHA:611201
- Feingold syndrome ORPHA:1305
- Short rib-polydactyly syndrome, Saldino-Noonan type ORPHA:93270
- Isolated anal canal duplication ORPHA:684752
- Isolated rectal duplication ORPHA:171220
- Visceral malformation of the liver, biliary tract, pancreas or spleen ORPHA:98041
- Non-syndromic visceral malformation ORPHA:108971
- Congenital respiratory-biliary fistula ORPHA:2040
- Partial pancreatic agenesis ORPHA:2805
- Annular pancreas ORPHA:675
- Accessory pancreas ORPHA:674
- Isolated biliary atresia ORPHA:30391
- Caroli disease ORPHA:53035
- Familial isolated congenital asplenia ORPHA:101351
- Isolated splenogonadal fusion ORPHA:457083
- Situs ambiguus ORPHA:157769
- Situs inversus totalis ORPHA:101063
- Isolated gallbladder duplication ORPHA:662388
- Splenic venous malformation ORPHA:688523
- Syndromic visceral malformation ORPHA:108973
- Renal-hepatic-pancreatic dysplasia ORPHA:294415
- Alagille syndrome ORPHA:52
- Alagille syndrome due to 20p12 microdeletion ORPHA:261600
- Alagille syndrome due to a JAG1 point mutation ORPHA:261619
- Alagille syndrome due to a NOTCH2 point mutation ORPHA:261629
- Meckel syndrome ORPHA:564
- Splenogonadal fusion-limb defects-micrognathia syndrome ORPHA:2063
- Biliary atresia with splenic malformation syndrome ORPHA:244283
- Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome ORPHA:293864
- Right sided atrial isomerism ORPHA:97548
- Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome ORPHA:689829
- Diaphragmatic hernia-short bowel-asplenia syndrome ORPHA:527468
- Pancreatic agenesis-holoprosencephaly syndrome ORPHA:556955
- Diaphragmatic or abdominal wall malformation ORPHA:98043
- Non-syndromic diaphragmatic or abdominal wall malformation ORPHA:108977
- Congenital diaphragmatic hernia ORPHA:2140
- Omphalocele ORPHA:660
- Exstrophy-epispadias complex ORPHA:322
- Gastroschisis ORPHA:2368
- Omphalomesenteric cyst ORPHA:490
- Syndromic diaphragmatic or abdominal wall malformation ORPHA:108979
- Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome ORPHA:496693
- Wolf-Hirschhorn syndrome ORPHA:280
- Cornelia de Lange syndrome ORPHA:199
- Trisomy 13 syndrome ORPHA:3378
- Trisomy 18 syndrome ORPHA:3380
- Pallister-Killian syndrome ORPHA:884
- Classical Ehlers-Danlos syndrome ORPHA:287
- Simpson-Golabi-Behmel syndrome ORPHA:373
- Pentalogy of Cantrell ORPHA:1335
- Fryns syndrome ORPHA:2059
- Diaphragmatic defect-limb deficiency-skull defect syndrome ORPHA:2141
- Donnai-Barrow syndrome ORPHA:2143
- Kabuki syndrome ORPHA:2322
- Limb body wall complex ORPHA:2369
- Matthew-Wood syndrome ORPHA:2470
- Lethal omphalocele-cleft palate syndrome ORPHA:2736
- Pericardial and diaphragmatic defect ORPHA:2847
- Omphalocele syndrome, Shprintzen-Goldberg type ORPHA:3164
- Cutis laxa ORPHA:209
- Geroderma osteodysplastica ORPHA:2078
- De Barsy syndrome ORPHA:2962
- SCARF syndrome ORPHA:3134
- Arterial tortuosity syndrome ORPHA:3342
- Occipital horn syndrome ORPHA:198
- Autosomal dominant cutis laxa ORPHA:90348
- Autosomal recessive cutis laxa type 1 ORPHA:90349
- Autosomal recessive cutis laxa type 2 ORPHA:90350
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- Autosomal recessive cutis laxa type 2B ORPHA:357064
- RIN2 syndrome ORPHA:217335
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies ORPHA:221145
- Craniofaciofrontodigital syndrome ORPHA:363705
- Lethal arteriopathy syndrome due to fibulin-4 deficiency ORPHA:314718
- Emanuel syndrome ORPHA:96170
- Classical-like Ehlers-Danlos syndrome type 1 ORPHA:230839
- Familial omphalocele syndrome with facial dysmorphism ORPHA:280403
- Spigelian hernia-cryptorchidism syndrome ORPHA:314432
- Lethal hydranencephaly-diaphragmatic hernia syndrome ORPHA:480528
- Diaphragmatic hernia-short bowel-asplenia syndrome ORPHA:527468
- Central nervous system malformation ORPHA:98044
- Non-syndromic central nervous system malformation ORPHA:108989
- Congenital hydrocephalus ORPHA:2185
- Congenital communicating hydrocephalus ORPHA:269505
- Congenital non-communicating hydrocephalus ORPHA:269510
- Neural tube defect ORPHA:3388
- Neural tube closure defect ORPHA:268357
- Spina bifida and other spinal dysraphisms ORPHA:823
- Open spinal dysraphism ORPHA:268369
- Open spinal dysraphism with a posterior meningocele ORPHA:645270
- Myelic limited dorsal malformation ORPHA:645378
- Open spinal dysraphism with a myelomeningocele ORPHA:93969
- Myeloschisis ORPHA:645398
- Spinal dysraphism with a posterior meningocele ORPHA:268744
- Isolated posterior meningocele ORPHA:268810
- Myelocystocele ORPHA:268813
- Saccular spinal dysraphism with a stalk to the dome ORPHA:645319
- Saccular limited dorsal myeloschisis ORPHA:645354
- Myelic limited dorsal malformation ORPHA:645378
- Terminal myelocystocele ORPHA:645337
- Open spinal dysraphism with a posterior meningocele ORPHA:645270
- Closed spinal dysraphism ORPHA:645202
- Split cord malformation ORPHA:573278
- Split cord malformation type II ORPHA:573253
- Split cord malformation type I ORPHA:1671
- Split cord malformation, composite type ORPHA:633076
- Isolated posterior meningocele ORPHA:268810
- Myelocystocele ORPHA:268813
- Segmental spinal dysgenesis ORPHA:656126
- Dysraphic spinal cord lipoma ORPHA:645273
- Caudal regression syndrome ORPHA:3027
- Dysraphism with stalk ORPHA:645193
- Retained medullary cord ORPHA:645334
- Spinal dermal sinus ORPHA:645188
- Limited dorsal myeloschisis ORPHA:645196
- Anomaly of the filum ORPHA:645282
- Spinal cord lipoma ORPHA:645276
- Malformation of the neurenteric canal, spinal cord and column ORPHA:268843
- Craniorachischisis ORPHA:63260
- Isolated anencephaly/exencephaly ORPHA:1048
- Iniencephaly ORPHA:63259
- Cephalocele ORPHA:268817
- Isolated encephalocele ORPHA:199647
- Parietal encephalocele ORPHA:268826
- Basal encephalocele ORPHA:268829
- Frontal encephalocele ORPHA:1931
- Nasal encephalocele ORPHA:141118
- Occipital encephalocele ORPHA:268823
- Cranial meningocele ORPHA:268820
- Split cord malformation ORPHA:573278
- Split cord malformation type II ORPHA:573253
- Split cord malformation type I ORPHA:1671
- Split cord malformation, composite type ORPHA:633076
- Segmental spinal dysgenesis ORPHA:656126
- Caudal regression syndrome ORPHA:3027
- Lateral meningocele syndrome ORPHA:2789
- Primary syringomyelia ORPHA:99856
- Primary tethered cord syndrome ORPHA:268861
- Neurenteric cyst ORPHA:268865
- Isolated amyelia ORPHA:268868
- Arnold-Chiari malformation type I ORPHA:268882
- Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome ORPHA:397927
- Cranial nerve and nuclear aplasia ORPHA:98518
- Moebius syndrome ORPHA:570
- Duane retraction syndrome ORPHA:233
- Isolated hereditary congenital facial paralysis ORPHA:306527
- Congenital hereditary facial paralysis-variable hearing loss syndrome ORPHA:306530
- Congenital achiasma ORPHA:324353
- Posterior fossa malformation ORPHA:98519
- Non-syndromic pontocerebellar hypoplasia ORPHA:98523
- Pontocerebellar hypoplasia type 2 ORPHA:2524
- Pontocerebellar hypoplasia type 1 ORPHA:2254
- Pontocerebellar hypoplasia type 3 ORPHA:97249
- Pontocerebellar hypoplasia type 4 ORPHA:166063
- Pontocerebellar hypoplasia type 6 ORPHA:166073
- Pontocerebellar hypoplasia type 7 ORPHA:284339
- Pontocerebellar hypoplasia type 8 ORPHA:324569
- Pontocerebellar hypoplasia type 9 ORPHA:369920
- Pontocerebellar hypoplasia type 10 ORPHA:411493
- Pontocerebellar hypoplasia type 12 ORPHA:611256
- Pontocerebellar hypoplasia type 11 ORPHA:611247
- Pontocerebellar hypoplasia type 13 ORPHA:613267
- Pontocerebellar hypoplasia type 14 ORPHA:613274
- Cerebellar malformation ORPHA:182061
- Rhombencephalosynapsis ORPHA:59315
- Malformation of the cerebellar vermis ORPHA:98514
- Joubert syndrome ORPHA:475
- Isolated cerebellar vermis hypoplasia ORPHA:199630
- Isolated cerebellar vermis agenesis ORPHA:269203
- Malformation of the cerebellar hemispheres ORPHA:98516
- Isolated unilateral hemispheric cerebellar hypoplasia ORPHA:269218
- Isolated bilateral hemispheric cerebellar hypoplasia ORPHA:269221
- Global cerebellar malformation ORPHA:269224
- Pontine tegmental cap dysplasia ORPHA:269229
- Isolated Dandy-Walker malformation ORPHA:217
- Isolated Dandy-Walker malformation with hydrocephalus ORPHA:269212
- Isolated Dandy-Walker malformation without hydrocephalus ORPHA:269215
- Mega-cisterna magna ORPHA:97252
- Blake pouch cyst ORPHA:98922
- Non-syndromic cerebral malformation ORPHA:199633
- Sporadic fetal brain disruption sequence ORPHA:1665
- Isolated megalencephaly ORPHA:2477
- Hemimegalencephaly ORPHA:99802
- Non-syndromic cerebral malformation due to abnormal neuronal migration ORPHA:163209
- Nodular neuronal heterotopia ORPHA:2149
- Periventricular nodular heterotopia ORPHA:98892
- Sub-cortical nodular heterotopia ORPHA:101029
- Subependymal nodular heterotopia ORPHA:101030
- Polymicrogyria ORPHA:35981
- Bilateral polymicrogyria ORPHA:268940
- Bilateral perisylvian polymicrogyria ORPHA:98889
- Bilateral frontoparietal polymicrogyria ORPHA:101070
- Bilateral parasagittal parieto-occipital polymicrogyria ORPHA:208441
- Bilateral frontal polymicrogyria ORPHA:208444
- Bilateral generalized polymicrogyria ORPHA:208447
- Unilateral polymicrogyria ORPHA:268943
- Subcortical band heterotopia ORPHA:99796
- Cerebral cortical dysplasia ORPHA:268950
- Isolated focal cortical dysplasia ORPHA:65683
- Occipital pachygyria and polymicrogyria ORPHA:280640
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation ORPHA:300570
- Autosomal recessive frontotemporal pachygyria ORPHA:329329
- Pachygyria-intellectual disability-epilepsy syndrome ORPHA:2798
- Isolated congenital microcephaly ORPHA:199642
- Autosomal recessive primary microcephaly ORPHA:2512
- Autosomal dominant primary microcephaly ORPHA:2514
- Midline cerebral malformation ORPHA:268926
- Holoprosencephaly ORPHA:2162
- Lobar holoprosencephaly ORPHA:93924
- Alobar holoprosencephaly ORPHA:93925
- Midline interhemispheric variant of holoprosencephaly ORPHA:93926
- Semilobar holoprosencephaly ORPHA:220386
- Septopreoptic holoprosencephaly ORPHA:280195
- Aprosencephaly cerebellar dysgenesis ORPHA:1126
- Duplication of the pituitary gland ORPHA:314621
- Microform holoprosencephaly ORPHA:280200
- Aprosencephaly/atelencephaly spectrum ORPHA:566847
- Isolated arhinencephaly ORPHA:268936
- Encephaloclastic disorder ORPHA:269190
- Diencephalic-mesencephalic junction dysplasia ORPHA:319192
- Isolated corpus callosum agenesis ORPHA:200
- Central nervous system cystic malformation ORPHA:269194
- Syndrome with a central nervous system malformation as a major feature ORPHA:108991
- Lissencephaly ORPHA:48471
- Microlissencephaly ORPHA:1083
- Cobblestone lissencephaly ORPHA:51577
- Cobblestone lissencephaly without muscular or ocular involvement ORPHA:352682
- Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ORPHA:352687
- Lissencephaly with cerebellar hypoplasia ORPHA:86823
- Lissencephaly with cerebellar hypoplasia type A ORPHA:100011
- Lissencephaly with cerebellar hypoplasia type B ORPHA:100012
- Lissencephaly with cerebellar hypoplasia type C ORPHA:100013
- Lissencephaly with cerebellar hypoplasia type D ORPHA:100014
- Lissencephaly with cerebellar hypoplasia type E ORPHA:100015
- Lissencephaly with cerebellar hypoplasia type F ORPHA:100016
- Classic lissencephaly ORPHA:102009
- Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome ORPHA:572013
- Lissencephaly type 1 due to doublecortin gene mutation ORPHA:2148
- Miller-Dieker syndrome ORPHA:531
- Isolated lissencephaly type 1 without known genetic defects ORPHA:1084
- Lissencephaly due to LIS1 mutation ORPHA:95232
- Other syndrome with lissencephaly as a major feature ORPHA:102010
- Craniotelencephalic dysplasia ORPHA:1528
- Micro syndrome ORPHA:2510
- Baraitser-Winter cerebrofrontofacial syndrome ORPHA:2995
- X-linked lissencephaly with abnormal genitalia ORPHA:452
- Lissencephaly type 3 ORPHA:102011
- Neu-Laxova syndrome ORPHA:2671
- Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency ORPHA:583607
- Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency ORPHA:583612
- Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency ORPHA:583602
- Lissencephaly type 3-familial fetal akinesia sequence syndrome ORPHA:86821
- Lissencephaly type 3-metacarpal bone dysplasia syndrome ORPHA:86822
- Lissencephaly due to TUBA1A mutation ORPHA:171680
- Syndrome with corpus callosum agenesis/dysgenesis as a major feature ORPHA:199639
- Microlissencephaly ORPHA:1083
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ORPHA:83473
- Aicardi syndrome ORPHA:50
- Acrocallosal syndrome ORPHA:36
- Corpus callosum agenesis-neuronopathy syndrome ORPHA:1496
- Vici syndrome ORPHA:1493
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome ORPHA:1495
- Curry-Jones syndrome ORPHA:1553
- Temtamy syndrome ORPHA:1777
- Toriello-Carey syndrome ORPHA:3338
- Micro syndrome ORPHA:2510
- White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome ORPHA:3207
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ORPHA:52055
- Microcephaly-polymicrogyria-corpus callosum agenesis syndrome ORPHA:171703
- L1 syndrome ORPHA:275543
- Hydrocephalus with stenosis of the aqueduct of Sylvius ORPHA:2182
- MASA syndrome ORPHA:2466
- X-linked complicated corpus callosum dysgenesis ORPHA:1497
- X-linked complicated spastic paraplegia type 1 ORPHA:306617
- ARX-related encephalopathy-brain malformation spectrum ORPHA:423655
- Corpus callosum agenesis-abnormal genitalia syndrome ORPHA:2508
- X-linked lissencephaly with abnormal genitalia ORPHA:452
- Corpus callosum agenesis-macrocephaly-hypertelorism syndrome ORPHA:459074
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome ORPHA:466688
- Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome ORPHA:457284
- Tubulinopathy-associated dysgyria ORPHA:467166
- Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom ORPHA:500159
- Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome ORPHA:447893
- Syndrome with a cerebellar malformation as a major feature ORPHA:269523
- X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome ORPHA:459070
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome ORPHA:466688
- SLC39A8-CDG ORPHA:468699
- Chudley-McCullough syndrome ORPHA:314597
- Vici syndrome ORPHA:1493
- NDE1-related microhydranencephaly ORPHA:443162
- Joubert syndrome with oculorenal defect ORPHA:2318
- Joubert syndrome with hepatic defect ORPHA:1454
- Gómez-López-Hernández syndrome ORPHA:1532
- Cerebellar hypoplasia-tapetoretinal degeneration syndrome ORPHA:2246
- Orofaciodigital syndrome type 6 ORPHA:2754
- Porencephaly-cerebellar hypoplasia-internal malformations syndrome ORPHA:2941
- Hoyeraal-Hreidarsson syndrome ORPHA:3322
- XK aprosencephaly syndrome ORPHA:3469
- PHACE syndrome ORPHA:42775
- Lhermitte-Duclos disease ORPHA:65285
- Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome ORPHA:65288
- Endosteal sclerosis-cerebellar hypoplasia syndrome ORPHA:85186
- X-linked intellectual disability-cerebellar hypoplasia syndrome ORPHA:137831
- X-linked intellectual disability, Najm type ORPHA:163937
- X-linked cerebral-cerebellar-coloboma syndrome ORPHA:163961
- Joubert syndrome with ocular defect ORPHA:220493
- Joubert syndrome with renal defect ORPHA:220497
- Syndrome with a Dandy-Walker malformation as a major feature ORPHA:269546
- Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome ORPHA:1538
- 3C syndrome ORPHA:7
- Aase-Smith syndrome ORPHA:916
- X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome ORPHA:1568
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome ORPHA:1970
- Cervical hypertrichosis-peripheral neuropathy syndrome ORPHA:2218
- NPHP3-related Meckel-like syndrome ORPHA:3032
- Macrocephaly-short stature-paraplegia syndrome ORPHA:2427
- Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome ORPHA:73245
- B4GALT1-CDG ORPHA:79332
- Dandy-Walker malformation-postaxial polydactyly syndrome ORPHA:1566
- Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome ORPHA:370022
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome ORPHA:397709
- Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome ORPHA:401959
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome ORPHA:439897
- Cerebellar-facial-dental syndrome ORPHA:444072
- Polymicrogyria due to TUBB2B mutation ORPHA:300573
- Tubulinopathy-associated dysgyria ORPHA:467166
- Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome ORPHA:480898
- Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome ORPHA:495875
- Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome ORPHA:529665
- Port-wine nevi-mega cisterna magna-hydrocephalus syndrome ORPHA:2703
- Lethal brain and heart developmental defects ORPHA:580933
- EN1-related dorsoventral syndrome ORPHA:611223
- Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome ORPHA:615954
- Syndrome with microcephaly as a major feature ORPHA:269528
- SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome ORPHA:597743
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus ORPHA:572333
- PYCR2-related microcephaly-progressive leukoencephalopathy ORPHA:481152
- Micro syndrome ORPHA:2510
- Microcephaly-brachydactyly-kyphoscoliosis syndrome ORPHA:3433
- Bowen-Conradi syndrome ORPHA:1270
- Microcephaly-cardiomyopathy syndrome ORPHA:2515
- Microcephaly-cervical spine fusion anomalies syndrome ORPHA:2522
- Microcephaly-brain defect-spasticity-hypernatremia syndrome ORPHA:2523
- Microcephaly-lymphedema-chorioretinopathy syndrome ORPHA:2526
- Microcephaly-microcornea syndrome, Seemanova type ORPHA:2528
- Amish lethal microcephaly ORPHA:99742
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome ORPHA:293967
- Microcephaly-capillary malformation syndrome ORPHA:294016
- Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome ORPHA:306558
- Jawad syndrome ORPHA:313795
- Microcephalic primordial dwarfism ORPHA:324761
- Seckel syndrome ORPHA:808
- Ear-patella-short stature syndrome ORPHA:2554
- Microcephalic primordial dwarfism, Toriello type ORPHA:2643
- Microcephalic osteodysplastic primordial dwarfism types I and III ORPHA:2636
- Microcephalic osteodysplastic primordial dwarfism type II ORPHA:2637
- Microcephalic osteodysplastic dysplasia, Saul-Wilson type ORPHA:85172
- Alazami syndrome ORPHA:319671
- Microcephalic primordial dwarfism, Dauber type ORPHA:319675
- Microcephalic primordial dwarfism due to ZNF335 deficiency ORPHA:329228
- Microcephalic cortical malformations-short stature due to RTTN deficiency ORPHA:468631
- DNMT3A-related microcephalic dwarfism ORPHA:658595
- DONSON-related microcephaly-short stature-limb abnormalities spectrum ORPHA:572761
- Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome ORPHA:329332
- Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome ORPHA:391408
- Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ORPHA:402364
- Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome ORPHA:404437
- Orofaciodigital syndrome type 14 ORPHA:434179
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome ORPHA:439897
- NDE1-related microhydranencephaly ORPHA:443162
- Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ORPHA:477814
- Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome ORPHA:662762
- Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome ORPHA:662179
- Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome ORPHA:664923
- Rauch-Steindl syndrome ORPHA:659642
- Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome ORPHA:684240
- Intellectual disability-early-onset cataract-microcephaly syndrome ORPHA:633035
- Other syndrome with a central nervous system malformation as a major feature ORPHA:269531
- Duane retraction syndrome with congenital deafness ORPHA:529574
- NDE1-related microhydranencephaly ORPHA:443162
- Lethal hydranencephaly-diaphragmatic hernia syndrome ORPHA:480528
- Polymicrogyria due to TUBB2B mutation ORPHA:300573
- FG syndrome type 1 ORPHA:93932
- Meckel syndrome ORPHA:564
- Horizontal gaze palsy with progressive scoliosis ORPHA:2744
- Spina bifida-hypospadias syndrome ORPHA:3176
- Oculocerebrocutaneous syndrome ORPHA:1647
- Caudal duplication ORPHA:1756
- Galloway-Mowat syndrome ORPHA:2065
- Hydrocephaly-low insertion umbilicus syndrome ORPHA:2184
- Holoprosencephaly-craniosynostosis syndrome ORPHA:2163
- Holoprosencephaly-caudal dysgenesis syndrome ORPHA:2165
- Hydrolethalus ORPHA:2189
- Kousseff syndrome ORPHA:2351
- Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome ORPHA:2570
- Septo-optic dysplasia spectrum ORPHA:3157
- Familial caudal dysgenesis ORPHA:1768
- Schisis association ORPHA:63862
- Cerebrooculonasal syndrome ORPHA:66625
- LUMBAR syndrome ORPHA:83628
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome ORPHA:171839
- Macrocephaly-intellectual disability-autism syndrome ORPHA:210548
- Fowler vasculopathy ORPHA:221126
- Progressive cerebello-cerebral atrophy ORPHA:247198
- Polymicrogyria with optic nerve hypoplasia ORPHA:250972
- CK syndrome ORPHA:251383
- Porencephaly-microcephaly-bilateral congenital cataract syndrome ORPHA:306547
- Chudley-McCullough syndrome ORPHA:314597
- Cataract-congenital heart disease-neural tube defect syndrome ORPHA:314993
- SLC35A2-CDG ORPHA:356961
- Ventriculomegaly-cystic kidney disease ORPHA:443988
- Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome ORPHA:444069
- Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome ORPHA:500135
- Hartsfield syndrome ORPHA:2117
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome ORPHA:500144
- Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome ORPHA:500150
- Pancreatic agenesis-holoprosencephaly syndrome ORPHA:556955
- Thoracic dysplasia-hydrocephalus syndrome ORPHA:1861
- PRUNE1-related neurological syndrome ORPHA:544469
- TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome ORPHA:592570
- KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome ORPHA:610569
- Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome ORPHA:664410
- 5q14.3 microdeletion syndrome ORPHA:228384
- Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation ORPHA:664416
- Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome ORPHA:662189
- Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome ORPHA:662207
- Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome ORPHA:659609
- Turnpenny-Fry syndrome ORPHA:688642
- Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome ORPHA:603448
- Respiratory or mediastinal malformation ORPHA:98045
- Non-syndromic respiratory or mediastinal malformation ORPHA:108993
- Congenital pulmonary lymphangiectasia ORPHA:2414
- Congenital pulmonary airway malformation ORPHA:2444
- Congenital pulmonary airway malformation type 0 ORPHA:280827
- Congenital pulmonary airway malformation type 1 ORPHA:280832
- Congenital pulmonary airway malformation type 2 ORPHA:280840
- Congenital pulmonary airway malformation type 3 ORPHA:280847
- Congenital pulmonary airway malformation type 4 ORPHA:280854
- Tracheal agenesis ORPHA:3346
- Pulmonary agenesis ORPHA:984
- Congenital respiratory-biliary fistula ORPHA:2040
- Congenital lobar emphysema ORPHA:1928
- Laryngotracheoesophageal cleft ORPHA:2004
- Laryngotracheoesophageal cleft type 1 ORPHA:93938
- Laryngotracheoesophageal cleft type 2 ORPHA:93939
- Laryngotracheoesophageal cleft type 3 ORPHA:93940
- Laryngotracheoesophageal cleft type 4 ORPHA:93941
- Laryngotracheoesophageal cleft type 0 ORPHA:280205
- Primary pulmonary hypoplasia ORPHA:2257
- Pulmonary arteriovenous malformation ORPHA:2038
- Congenital pulmonary sequestration ORPHA:3161
- Intralobar congenital pulmonary sequestration ORPHA:280802
- Extralobar congenital pulmonary sequestration ORPHA:280811
- Communicating congenital bronchopulmonary-foregut malformation ORPHA:280821
- Bronchopulmonary dysplasia ORPHA:70589
- Congenital tracheomalacia ORPHA:95430
- Williams-Campbell syndrome ORPHA:411501
- Bronchial malformation ORPHA:649014
- Non-syndromic bridging bronchus ORPHA:648992
- Non-syndromic congenital bronchial atresia ORPHA:649010
- Isolated left bronchial isomerism ORPHA:649029
- Bronchogenic cyst ORPHA:2357
- Isolated tracheoesophageal fistula ORPHA:454750
- Syndromic respiratory or mediastinal malformation ORPHA:108995
- Fetal akinesia deformation sequence ORPHA:994
- Lung agenesis-heart defect-thumb anomalies syndrome ORPHA:1120
- Lethal congenital contracture syndrome type 1 ORPHA:1486
- Laryngo-onycho-cutaneous syndrome ORPHA:2407
- Matthew-Wood syndrome ORPHA:2470
- Growth delay-hydrocephaly-lung hypoplasia syndrome ORPHA:3035
- Opitz GBBB syndrome ORPHA:2745
- Aortic arch defects ORPHA:1132
- Malformation syndrome with hamartosis ORPHA:98196
- Von Hippel-Lindau disease ORPHA:892
- Gorlin syndrome ORPHA:377
- Peutz-Jeghers syndrome ORPHA:2869
- Hereditary hemorrhagic telangiectasia ORPHA:774
- Dyskeratosis congenita ORPHA:1775
- Angioosteohypertrophic syndrome ORPHA:2346
- Linear nevus sebaceus syndrome ORPHA:2612
- Sturge-Weber syndrome ORPHA:3205
- Tuberous sclerosis complex ORPHA:805
- Neurofibromatosis-Noonan syndrome ORPHA:638
- Noonan syndrome with multiple lentigines ORPHA:500
- Hereditary neurocutaneous malformation ORPHA:1062
- Focal dermal hypoplasia ORPHA:2092
- Ollier disease ORPHA:296
- Phakomatosis pigmentokeratotica ORPHA:2874
- Phakomatosis pigmentovascularis ORPHA:2875
- Phakomatosis cesioflammea ORPHA:79483
- Phakomatosis cesiomarmorata ORPHA:79484
- Phakomatosis spilorosea ORPHA:79485
- Becker nevus syndrome ORPHA:64755
- Gardner syndrome ORPHA:79665
- Full schwannomatosis ORPHA:93921
- Maffucci syndrome ORPHA:163634
- Hemihyperplasia-multiple lipomatosis syndrome ORPHA:276280
- PTEN hamartoma tumor syndrome ORPHA:306498
- Developmental defect of the eye ORPHA:98553
- Congenital primary aphakia ORPHA:83461
- Syndromic optic nerve hypoplasia ORPHA:137905
- Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome ORPHA:603494
- Septo-optic dysplasia spectrum ORPHA:3157
- Polymicrogyria with optic nerve hypoplasia ORPHA:250972
- Congenital optic disc excavation ORPHA:519333
- Peripapillary staphyloma ORPHA:519400
- Optic disc pit ORPHA:519404
- Coloboma of optic disc ORPHA:98947
- Familial cavitary optic disc anomaly ORPHA:464760
- Morning glory disc anomaly ORPHA:35737
- Isolated megalopapilla ORPHA:519402
- Rare disorder with optic disc malformation ORPHA:519345
- SRD5A3-CDG ORPHA:324737
- Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome ORPHA:435930
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ORPHA:52055
- Renal coloboma syndrome ORPHA:1475
- Rare palpebral disorder ORPHA:98560
- Congenital malformation of the eyelid ORPHA:98561
- Cryptophthalmia ORPHA:98562
- Microblepharon-ablephara syndrome ORPHA:98563
- Eyelid border anomaly ORPHA:98564
- Isolated ankyloblepharon filiforme adnatum ORPHA:91397
- Syndromic ankyloblepharon filiforme adnatum ORPHA:98565
- Popliteal pterygium syndrome ORPHA:294963
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ORPHA:1071
- Ankyloblepharon filiforme adnatum-cleft palate syndrome ORPHA:1072
- Ankyloblepharon filiforme adnatum-imperforate anus syndrome ORPHA:1074
- Frontofacionasal dysplasia ORPHA:1791
- Microphthalmia-ankyloblepharon-intellectual disability syndrome ORPHA:85275
- Syndromic eyelid coloboma ORPHA:98566
- Treacher-Collins syndrome ORPHA:861
- Nager syndrome ORPHA:245
- Postaxial acrofacial dysostosis ORPHA:246
- Bartsocas-Papas syndrome ORPHA:1234
- Frontofacionasal dysplasia ORPHA:1791
- Nasopalpebral lipoma-coloboma syndrome ORPHA:2399
- Oculotrichoanal syndrome ORPHA:2717
- Coloboma of eyelid ORPHA:98946
- Congenital eyelid retraction ORPHA:99176
- Rare eyelid malposition disorder ORPHA:98567
- Rare disorder with ptosis ORPHA:98578
- X-linked centronuclear myopathy ORPHA:596
- Dubowitz syndrome ORPHA:235
- Jacobsen syndrome ORPHA:2308
- Proximal myotonic myopathy ORPHA:606
- Oculopharyngeal muscular dystrophy ORPHA:270
- Oculogastrointestinal muscular dystrophy ORPHA:1876
- Borjeson-Forssman-Lehmann syndrome ORPHA:127
- Camptodactyly-joint contractures-facial skeletal defects syndrome ORPHA:1323
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome ORPHA:1352
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome ORPHA:2057
- Acrootoocular syndrome ORPHA:2980
- Ptosis-vocal cord paralysis syndrome ORPHA:2997
- Ptosis-strabismus-ectopic pupils syndrome ORPHA:2999
- Baraitser-Winter cerebrofrontofacial syndrome ORPHA:2995
- Mitochondrial DNA-related progressive external ophthalmoplegia ORPHA:663
- Smith-Lemli-Opitz syndrome ORPHA:818
- Mitochondrial neurogastrointestinal encephalomyopathy ORPHA:298
- Congenital myasthenic syndrome ORPHA:590
- Postsynaptic congenital myasthenic syndromes ORPHA:98913
- Presynaptic congenital myasthenic syndromes ORPHA:98914
- Synaptic congenital myasthenic syndromes ORPHA:98915
- Congenital myasthenic syndromes with glycosylation defect ORPHA:353327
- Dopamine beta-hydroxylase deficiency ORPHA:230
- Congenital fibrosis of extraocular muscles ORPHA:45358
- Char syndrome ORPHA:46627
- Goldberg-Shprintzen megacolon syndrome ORPHA:66629
- Marcus-Gunn syndrome ORPHA:91412
- Congenital Horner syndrome ORPHA:91413
- Oculopharyngodistal myopathy ORPHA:98897
- Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome ORPHA:228396
- Steinert myotonic dystrophy ORPHA:273
- Childhood-onset Steinert myotonic dystrophy ORPHA:589824
- Juvenile-onset Steinert myotonic dystrophy ORPHA:589827
- Adult-onset Steinert myotonic dystrophy ORPHA:589830
- Late-onset Steinert myotonic dystrophy ORPHA:589833
- Congenital-onset Steinert myotonic dystrophy ORPHA:589821
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Noonan syndrome ORPHA:648
- Saethre-Chotzen syndrome ORPHA:794
- Blepharophimosis-ptosis-epicanthus inversus syndrome ORPHA:126
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 ORPHA:572354
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 ORPHA:572361
- Treacher-Collins syndrome ORPHA:861
- Cornelia de Lange syndrome ORPHA:199
- Blepharophimosis-intellectual disability syndrome ORPHA:293642
- SMARCA2-related blepharophimosis-intellectual disability syndrome ORPHA:637013
- Distal deletion 3p syndrome ORPHA:1620
- Blepharophimosis-intellectual disability syndrome, Ohdo type ORPHA:2728
- Blepharophimosis-intellectual disability syndrome, SBBYS type ORPHA:3047
- Blepharophimosis-intellectual disability syndrome, MKB type ORPHA:293707
- Blepharophimosis-intellectual disability syndrome, Verloes type ORPHA:293725
- Congenital ptosis ORPHA:91411
- Weiss-Kruszka Syndrome ORPHA:502430
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus ORPHA:572333
- Epiblepharon ORPHA:99169
- Euryblepharon ORPHA:99172
- Rare disorder with ectropion ORPHA:519268
- Congenital ectropion ORPHA:98570
- Blepharo-cheilo-odontic syndrome ORPHA:1997
- Kabuki syndrome ORPHA:2322
- Isolated congenital ectropion ORPHA:99171
- Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome ORPHA:357158
- Secondary ectropion ORPHA:98571
- Down syndrome ORPHA:870
- Postaxial acrofacial dysostosis ORPHA:246
- Barber-Say syndrome ORPHA:1231
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome ORPHA:2269
- Xeroderma pigmentosum ORPHA:910
- Xeroderma pigmentosum variant ORPHA:90342
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Autosomal recessive congenital ichthyosis ORPHA:281097
- Rare disorder with entropion ORPHA:519270
- Xeroderma pigmentosum ORPHA:910
- Xeroderma pigmentosum variant ORPHA:90342
- Tarsal kink syndrome ORPHA:99170
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Isolated congenital entropion ORPHA:519386
- Isolated blepharochalasis ORPHA:519390
- Ascher syndrome ORPHA:1253
- Mucous membrane pemphigoid ORPHA:46486
- Syndromic epicanthus ORPHA:98574
- Distal duplication 14q syndrome ORPHA:1705
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- Down syndrome ORPHA:870
- Williams syndrome ORPHA:904
- Monosomy 5p syndrome ORPHA:281
- Monosomy 13q14 syndrome ORPHA:1587
- Marinesco-Sjögren syndrome ORPHA:559
- Smith-Lemli-Opitz syndrome ORPHA:818
- Congenital cataracts-facial dysmorphism-neuropathy syndrome ORPHA:48431
- Syndromic telecanthus ORPHA:98575
- Opitz GBBB syndrome ORPHA:2745
- Waardenburg syndrome type 1 ORPHA:894
- Waardenburg syndrome type 3 ORPHA:896
- Blepharophimosis-ptosis-epicanthus inversus syndrome ORPHA:126
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 ORPHA:572354
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 ORPHA:572361
- Oculocerebrofacial syndrome, Kaufman type ORPHA:2707
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus ORPHA:572333
- Syndromic outer canthal malposition ORPHA:98576
- Rare eyebrow/eyelash disorder ORPHA:98594
- Lacrimal drainage system anomaly ORPHA:98605
- Nasolacrimal duct cyst ORPHA:141083
- Familial congenital nasolacrimal duct obstruction ORPHA:451612
- Syndromic lacrimal system disorder ORPHA:519274
- Structural developmental eye defect ORPHA:519272
- Melnick-Needles syndrome ORPHA:2484
- Microphthalmia-anophthalmia-coloboma ORPHA:98555
- Isolated microphthalmia-anophthalmia-coloboma ORPHA:2542
- Syndromic microphthalmia-anophthalmia-coloboma ORPHA:202948
- Microphthalmia, Lenz type ORPHA:568
- Microphthalmia with limb anomalies ORPHA:1106
- COFS syndrome ORPHA:1466
- Ectodermal dysplasia-blindness syndrome ORPHA:1806
- Matthew-Wood syndrome ORPHA:2470
- Micro syndrome ORPHA:2510
- Microphthalmia with linear skin defects syndrome ORPHA:2556
- Oculofaciocardiodental syndrome ORPHA:2712
- MMEP syndrome ORPHA:3434
- Anophthalmia/microphthalmia-esophageal atresia syndrome ORPHA:77298
- Microphthalmia-brain atrophy syndrome ORPHA:77299
- Microphthalmia-ankyloblepharon-intellectual disability syndrome ORPHA:85275
- Microphthalmia with brain and digit anomalies ORPHA:139471
- Oculoauricular syndrome, Schorderet type ORPHA:157962
- Syndromic microphthalmia type 5 ORPHA:178364
- Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome ORPHA:251279
- Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome ORPHA:363741
- Colobomatous microphthalmia-rhizomelic dysplasia syndrome ORPHA:424099
- X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome ORPHA:431140
- Macrosomia-microphthalmia-cleft palate syndrome ORPHA:2432
- Microphthalmia-microtia-fetal akinesia syndrome ORPHA:2547
- Oculocerebrocutaneous syndrome ORPHA:1647
- Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome ORPHA:603494
- Oculogastrointestinal-neurodevelopmental syndrome ORPHA:611201
- Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome ORPHA:689829
- Euthyroid Graves orbitopathy ORPHA:466682
- Colobomatous macrophthalmia-microcornea syndrome ORPHA:468672
- Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome ORPHA:659904
- Congenital cystic eye ORPHA:519384
- High myopia-sensorineural deafness syndrome ORPHA:363396
- Anterior segment developmental anomaly ORPHA:88632
- Anterior segment developmental anomaly without extraocular manifestations ORPHA:98634
- Bilateral acute depigmentation of the iris ORPHA:69736
- Axenfeld anomaly ORPHA:98978
- Isolated aniridia ORPHA:250923
- Autosomal recessive anterior segment dysgenesis ORPHA:519388
- Peters anomaly ORPHA:708
- Rieger anomaly ORPHA:91483
- Congenital microcoria ORPHA:566
- Congenital ectropion uveae ORPHA:91491
- Coloboma of iris ORPHA:98944
- Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome ORPHA:488197
- Isolated iridoschisis ORPHA:519392
- Anterior segment developmental abnormality with extraocular manifestations ORPHA:519276
- Peters plus syndrome ORPHA:709
- Axenfeld-Rieger syndrome ORPHA:782
- Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome ORPHA:139450
- Uveal coloboma-cleft lip and palate-intellectual disability ORPHA:1473
- GMS syndrome ORPHA:2090
- Pierson syndrome ORPHA:2670
- SHORT syndrome ORPHA:3163
- Cat-eye syndrome ORPHA:195
- Distal deletion 6p syndrome ORPHA:96125
- Alagille syndrome ORPHA:52
- Alagille syndrome due to 20p12 microdeletion ORPHA:261600
- Alagille syndrome due to a JAG1 point mutation ORPHA:261619
- Alagille syndrome due to a NOTCH2 point mutation ORPHA:261629
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ORPHA:52055
- Syndromic aniridia ORPHA:98557
- WAGR syndrome ORPHA:893
- Aniridia-cerebellar ataxia-intellectual disability syndrome ORPHA:1065
- Aniridia-renal agenesis-psychomotor retardation syndrome ORPHA:1064
- Aniridia-absent patella syndrome ORPHA:1069
- Aniridia-ptosis-intellectual disability-familial obesity syndrome ORPHA:1067
- Aniridia-intellectual disability syndrome ORPHA:1068
- Stromme syndrome ORPHA:506307
- Jung syndrome ORPHA:2321
- Early onset non-syndromic cataract ORPHA:91492
- Early-onset partial cataract ORPHA:98992
- Pulverulent cataract ORPHA:98984
- Early-onset anterior polar cataract ORPHA:98988
- Coralliform cataract ORPHA:98990
- Early-onset posterior polar cataract ORPHA:98993
- Early-onset zonular cataract ORPHA:98995
- Early-onset sutural cataract ORPHA:98985
- Early-onset nuclear cataract ORPHA:98991
- Early-onset lamellar cataract ORPHA:441452
- Cerulean cataract ORPHA:98989
- Early-onset posterior subcapsular cataract ORPHA:441447
- Total early-onset cataract ORPHA:98994
- Lens size anomaly ORPHA:98652
- Syndromic microspherophakia ORPHA:519294
- Microspherophakia-metaphyseal dysplasia syndrome ORPHA:2551
- Weill-Marchesani syndrome ORPHA:3449
- Spondylo-ocular syndrome ORPHA:85194
- Ichthyosis-short stature-brachydactyly-microspherophakia syndrome ORPHA:363992
- Autosomal dominant vitreoretinochoroidopathy ORPHA:3086
- Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome ORPHA:2084
- Isolated microspherophakia ORPHA:519396
- Lens position anomaly ORPHA:98653
- Isolated ectopia lentis ORPHA:1885
- Syndromic ectopia lentis ORPHA:519292
- Focal dermal hypoplasia ORPHA:2092
- Weill-Marchesani syndrome ORPHA:3449
- Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome ORPHA:231736
- Marfan syndrome ORPHA:558
- Microspherophakia-metaphyseal dysplasia syndrome ORPHA:2551
- Blindness-scoliosis-arachnodactyly syndrome ORPHA:171844
- Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome ORPHA:412022
- Aniridia-intellectual disability syndrome ORPHA:1068
- Blepharoptosis-myopia-ectopia lentis syndrome ORPHA:1259
- Epidermolysis bullosa simplex with anodontia/hypodontia ORPHA:2325
- Homocystinuria due to cystathionine beta-synthase deficiency ORPHA:394
- Encephalopathy due to sulfite oxidase deficiency ORPHA:833
- Isolated sulfite oxidase deficiency ORPHA:99731
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency ORPHA:99732
- Marshall syndrome ORPHA:560
- Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome ORPHA:2084
- Lens shape anomaly ORPHA:98655
- CHARGE syndrome ORPHA:138
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- Meckel syndrome ORPHA:564
- Microphthalmia, Lenz type ORPHA:568
- Alport syndrome ORPHA:63
- X-linked Alport syndrome ORPHA:88917
- Autosomal dominant Alport syndrome ORPHA:88918
- Autosomal recessive Alport syndrome ORPHA:88919
- X-linked Alport syndrome-diffuse leiomyomatosis ORPHA:1018
- Digenic Alport syndrome ORPHA:653722
- Focal dermal hypoplasia ORPHA:2092
- Coloboma of eye lens ORPHA:98943
- Congenital cornea plana ORPHA:53691
- Corneodysgenesis ORPHA:98635
- Coloboma of choroid and retina ORPHA:98942
- Coloboma of macula-brachydactyly type B syndrome ORPHA:1471
- Macular coloboma-cleft palate-hallux valgus syndrome ORPHA:91494
- Coloboma of macula ORPHA:98945
- Primary early-onset glaucoma ORPHA:156005
- Congenital malformation of the eye with glaucoma as a major feature ORPHA:98631
- Coats disease ORPHA:190
- Nanophthalmos ORPHA:35612
- Iridocorneal endothelial syndrome ORPHA:64734
- Neovascular glaucoma ORPHA:94058
- Glaucoma secondary to spherophakia/ectopia lentis and megalocornea ORPHA:238763
- X-linked retinoschisis ORPHA:792
- Anterior segment developmental anomaly without extraocular manifestations ORPHA:98634
- Bilateral acute depigmentation of the iris ORPHA:69736
- Axenfeld anomaly ORPHA:98978
- Isolated aniridia ORPHA:250923
- Autosomal recessive anterior segment dysgenesis ORPHA:519388
- Peters anomaly ORPHA:708
- Rieger anomaly ORPHA:91483
- Congenital microcoria ORPHA:566
- Congenital ectropion uveae ORPHA:91491
- Coloboma of iris ORPHA:98944
- Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome ORPHA:488197
- Isolated iridoschisis ORPHA:519392
- Posterior polymorphous corneal dystrophy ORPHA:98973
- Isolated optic nerve aplasia ORPHA:637064
- Isolated optic nerve hypoplasia ORPHA:637061
- Developmental anomaly of metabolic origin ORPHA:139009
- Multiple sulfatase deficiency ORPHA:585
- Fabry disease ORPHA:324
- Hypophosphatasia ORPHA:436
- Perinatal lethal hypophosphatasia ORPHA:247623
- Prenatal benign hypophosphatasia ORPHA:247638
- Infantile hypophosphatasia ORPHA:247651
- Childhood-onset hypophosphatasia ORPHA:247667
- Adult hypophosphatasia ORPHA:247676
- Odontohypophosphatasia ORPHA:247685
- Homocystinuria due to cystathionine beta-synthase deficiency ORPHA:394
- Zellweger syndrome ORPHA:912
- Encephalopathy due to sulfite oxidase deficiency ORPHA:833
- Isolated sulfite oxidase deficiency ORPHA:99731
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency ORPHA:99732
- Infantile Refsum disease ORPHA:772
- Sterol biosynthesis disorder ORPHA:79195
- CHILD syndrome ORPHA:139
- Smith-Lemli-Opitz syndrome ORPHA:818
- X-linked dominant chondrodysplasia punctata ORPHA:35173
- Lathosterolosis ORPHA:46059
- Mevalonate kinase deficiency ORPHA:309025
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome ORPHA:488168
- Greenberg dysplasia ORPHA:1426
- Desmosterolosis ORPHA:35107
- MEND syndrome ORPHA:401973
- CK syndrome ORPHA:251383
- Mucolipidosis ORPHA:79212
- Mucopolysaccharidosis ORPHA:79213
- Mucopolysaccharidosis type 6 ORPHA:583
- Mucopolysaccharidosis type 6, rapidly progressing ORPHA:276212
- Mucopolysaccharidosis type 6, slowly progressing ORPHA:276223
- Mucopolysaccharidosis type 7 ORPHA:584
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Mucopolysaccharidosis type 1 ORPHA:579
- Mucopolysaccharidosis type 3 ORPHA:581
- Sanfilippo syndrome type A ORPHA:79269
- Sanfilippo syndrome type B ORPHA:79270
- Sanfilippo syndrome type C ORPHA:79271
- Sanfilippo syndrome type D ORPHA:79272
- Mucopolysaccharidosis type 4 ORPHA:582
- Hyaluronidase deficiency ORPHA:67041
- Mucopolysaccharidosis type 10 ORPHA:662216
- Sialidosis type 2 ORPHA:87876
- Pseudohypoparathyroidism ORPHA:97593
- Pseudohypoparathyroidism without Albright hereditary osteodystrophy ORPHA:457062
- Pseudohypoparathyroidism with Albright hereditary osteodystrophy ORPHA:457059
- CADDS ORPHA:369942
- Congenital disorder of glycosylation with developmental anomaly ORPHA:371235
- Congenital muscular dystrophy, Fukuyama type ORPHA:272
- Walker-Warburg syndrome ORPHA:899
- Muscle-eye-brain disease ORPHA:588
- B4GALT1-CDG ORPHA:79332
- Multiple congenital anomalies-hypotonia-seizures syndrome ORPHA:280633
- Multiple congenital anomalies-hypotonia-seizures syndrome type 2 ORPHA:300496
- SLC35A2-CDG ORPHA:356961
- XYLT1-CDG ORPHA:370930
- Autism spectrum disorder-epilepsy-arthrogryposis syndrome ORPHA:370943
- Congenital disorder of glycosylation with cardiac malformation as a major feature ORPHA:371183
- Peters plus syndrome ORPHA:709
- Musculocontractural Ehlers-Danlos syndrome ORPHA:2953
- CHIME syndrome ORPHA:3474
- MGAT2-CDG ORPHA:79329
- COG7-CDG ORPHA:79333
- Larsen-like syndrome, B3GAT3 type ORPHA:284139
- Congenital disorder of glycosylation-related bone disorder ORPHA:371195
- Autosomal recessive spondylocostal dysostosis ORPHA:2311
- Schneckenbecken dysplasia ORPHA:3144
- Multiple osteochondromas ORPHA:321
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
- Hyperphosphatasia-intellectual disability syndrome ORPHA:247262
- CHST3-related skeletal dysplasia ORPHA:263463
- COG1-CDG ORPHA:263508
- Larsen-like syndrome, B3GAT3 type ORPHA:284139
- TMEM165-CDG ORPHA:314667
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- Temtamy preaxial brachydactyly syndrome ORPHA:363417
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome ORPHA:369837
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:536467
- Congenital disorder of glycosylation with deafness as a major feature ORPHA:371212
- Rare bone development disorder ORPHA:139012
- Primary bone dysplasia ORPHA:364526
- Genetic inflammatory or rheumatoid-like osteoarthropathy ORPHA:498445
- Progressive pseudorheumatoid dysplasia ORPHA:1159
- Hyaline fibromatosis syndrome ORPHA:498474
- CINCA syndrome ORPHA:1451
- Sterile multifocal osteomyelitis with periostitis and pustulosis ORPHA:210115
- Familial tumoral calcinosis ORPHA:53715
- Familial normophosphatemic tumoral calcinosis ORPHA:306658
- Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome ORPHA:306661
- Majeed syndrome ORPHA:77297
- Overgrowth or tall stature syndrome with skeletal involvement ORPHA:498448
- X-linked severe syndromic thoracic aortic aneurysm and dissection ORPHA:622925
- PRC-2 complex-related overgrowth spectrum ORPHA:659387
- Cohen-Gibson syndrome ORPHA:659396
- Weaver syndrome ORPHA:3447
- Imagawa-Matsumoto syndrome ORPHA:659463
- Marfan syndrome ORPHA:558
- Proteus syndrome ORPHA:744
- Sotos syndrome ORPHA:821
- Marshall-Smith syndrome ORPHA:561
- CLOVES syndrome ORPHA:140944
- Congenital contractural arachnodactyly ORPHA:115
- Loeys-Dietz syndrome ORPHA:60030
- Overgrowth syndrome with 2q37 translocation ORPHA:498488
- Tall stature-long halluces-multiple extra-epiphyses syndrome ORPHA:329191
- Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome ORPHA:498485
- Kosaki overgrowth syndrome ORPHA:477831
- Luscan-Lumish syndrome ORPHA:597738
- Primary bone dysplasia with micromelia ORPHA:364536
- Achondroplasia ORPHA:15
- Hypochondroplasia ORPHA:429
- Diastrophic dysplasia ORPHA:628
- Thanatophoric dysplasia ORPHA:2655
- Chondrodysplasia-difference of sex development syndrome ORPHA:1422
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome ORPHA:85165
- Otopalatodigital syndrome spectrum disorder ORPHA:364541
- Otopalatodigital syndrome type 2 ORPHA:90652
- Frontometaphyseal dysplasia ORPHA:1826
- Melnick-Needles syndrome ORPHA:2484
- Otopalatodigital syndrome type 1 ORPHA:90650
- Frank-Ter Haar syndrome ORPHA:137834
- Short stature-advanced bone age-early-onset osteoarthritis syndrome ORPHA:435804
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia ORPHA:253
- Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type ORPHA:642099
- MGP-related spondyloepiphyseal dysplasia ORPHA:664377
- Hip dysplasia, Beukes type ORPHA:2114
- Schwartz-Jampel syndrome ORPHA:800
- Dyggve-Melchior-Clausen disease ORPHA:239
- Marshall syndrome ORPHA:560
- Metatropic dysplasia ORPHA:2635
- Stickler syndrome ORPHA:828
- Stickler syndrome type 1 ORPHA:90653
- Stickler syndrome type 2 ORPHA:90654
- Autosomal recessive Stickler syndrome ORPHA:250984
- Progressive pseudorheumatoid dysplasia ORPHA:1159
- Autosomal recessive otospondylomegaepiphyseal dysplasia ORPHA:1427
- Wolcott-Rallison syndrome ORPHA:1667
- Schimke immuno-osseous dysplasia ORPHA:1830
- Dyssegmental dysplasia, Silverman-Handmaker type ORPHA:1865
- Kniest dysplasia ORPHA:485
- Richieri Costa-da Silva syndrome ORPHA:3101
- Spondyloperipheral dysplasia-short ulna syndrome ORPHA:1856
- Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome ORPHA:83629
- Brachydactylous dwarfism, Mseleni type ORPHA:2619
- Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis ORPHA:93279
- Spondyloepimetaphyseal dysplasia, PAPSS2 type ORPHA:93282
- Spondyloepiphyseal dysplasia, Kimberley type ORPHA:93283
- Spondyloepiphyseal dysplasia tarda ORPHA:93284
- Spondyloepimetaphyseal dysplasia congenita, Strudwick type ORPHA:93346
- Anauxetic dysplasia ORPHA:93347
- X-linked spondyloepimetaphyseal dysplasia ORPHA:93349
- Spondyloepimetaphyseal dysplasia, Irapa type ORPHA:93351
- Spondyloepimetaphyseal dysplasia, Shohat type ORPHA:93352
- Spondyloepimetaphyseal dysplasia, Missouri type ORPHA:93356
- SPONASTRIME dysplasia ORPHA:93357
- Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ORPHA:93358
- Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type ORPHA:93360
- Spondyloepiphyseal dysplasia congenita ORPHA:94068
- Spondyloepimetaphyseal dysplasia, Handigodu type ORPHA:99642
- Spondyloepiphyseal dysplasia with metatarsal shortening ORPHA:137678
- Spondyloepimetaphyseal dysplasia, matrilin-3 type ORPHA:156728
- Dyssegmental dysplasia, Rolland-Desbuquois type ORPHA:156731
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:157965
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome ORPHA:163649
- Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome ORPHA:163654
- Spondyloepiphyseal dysplasia, Reardon type ORPHA:163662
- Spondyloepiphyseal dysplasia tarda, Kohn type ORPHA:163665
- Spondyloepiphyseal dysplasia, MacDermot type ORPHA:163668
- Autosomal dominant otospondylomegaepiphyseal dysplasia ORPHA:166100
- Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome ORPHA:168443
- Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome ORPHA:168451
- Spondyloepimetaphyseal dysplasia, Geneviève type ORPHA:168454
- Spondyloepimetaphyseal dysplasia, aggrecan type ORPHA:171866
- Smith-McCort dysplasia ORPHA:178355
- Spondylo-megaepiphyseal-metaphyseal dysplasia ORPHA:228387
- Spondyloepimetaphyseal dysplasia, Maroteaux type ORPHA:263482
- Roifman syndrome ORPHA:353298
- Spondyloepimetaphyseal dysplasia, Isidor-Toutain type ORPHA:370015
- Cono-spondylar dysplasia ORPHA:420794
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ORPHA:436174
- EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity ORPHA:642085
- EVEN-plus syndrome ORPHA:496751
- Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome ORPHA:611207
- CODAS syndrome ORPHA:1458
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome ORPHA:457395
- X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome ORPHA:459070
- Spondyloepiphyseal dysplasia, Stanescu type ORPHA:459051
- Spondylometaphyseal dysplasia ORPHA:254
- Spondylometaphyseal dysplasia, A4 type ORPHA:168555
- Regressive spondylometaphyseal dysplasia ORPHA:448267
- Spondyloenchondrodysplasia ORPHA:1855
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome ORPHA:85167
- Spondylometaphyseal dysplasia, Kozlowski type ORPHA:93314
- Spondylometaphyseal dysplasia, 'corner fracture' type ORPHA:93315
- Spondylometaphyseal dysplasia, Schmidt type ORPHA:93316
- Odontochondrodysplasia ORPHA:166272
- Spondylometaphyseal dysplasia, Golden type ORPHA:168544
- Axial spondylometaphyseal dysplasia ORPHA:168549
- Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome ORPHA:168552
- Spondylometaphyseal dysplasia-corneal dystrophy syndrome ORPHA:589435
- Ciliopathies with major skeletal involvement ORPHA:93426
- Short rib-polydactyly syndrome ORPHA:1505
- Short rib-polydactyly syndrome type 5 ORPHA:498497
- Jeune syndrome ORPHA:474
- Ellis Van Creveld syndrome ORPHA:289
- Cranioectodermal dysplasia ORPHA:1515
- Short rib-polydactyly syndrome, Beemer-Langer type ORPHA:93268
- Short rib-polydactyly syndrome, Majewski type ORPHA:93269
- Short rib-polydactyly syndrome, Saldino-Noonan type ORPHA:93270
- Short rib-polydactyly syndrome, Verma-Naumoff type ORPHA:93271
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy ORPHA:397715
- Thoracomelic dysplasia ORPHA:1803
- Orofaciodigital syndrome type 4 ORPHA:2753
- Thoracolaryngopelvic dysplasia ORPHA:3317
- Saldino-Mainzer syndrome ORPHA:140969
- NEK9-related lethal skeletal dysplasia ORPHA:464366
- Thoracic dysplasia-hydrocephalus syndrome ORPHA:1861
- Multiple epiphyseal dysplasia and pseudoachondroplasia ORPHA:93429
- Multiple epiphyseal dysplasia ORPHA:251
- Multiple epiphyseal dysplasia type 4 ORPHA:93307
- Multiple epiphyseal dysplasia type 1 ORPHA:93308
- Multiple epiphyseal dysplasia type 5 ORPHA:93311
- Multiple epiphyseal dysplasia due to collagen 9 anomaly ORPHA:166002
- Multiple epiphyseal dysplasia, Lowry type ORPHA:166016
- Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome ORPHA:166024
- Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome ORPHA:166029
- Multiple epiphyseal dysplasia-miniepiphyses syndrome ORPHA:166032
- Multiple epiphyseal dysplasia type 7 ORPHA:647676
- Lowry-Wood syndrome ORPHA:1824
- Pseudoachondroplasia ORPHA:750
- Autosomal recessive Stickler syndrome ORPHA:250984
- Multiple metaphyseal dysplasia ORPHA:93430
- Metaphyseal anadysplasia ORPHA:1040
- Metaphyseal chondrodysplasia, Schmid type ORPHA:174
- Metaphyseal chondrodysplasia, Rosenberg type ORPHA:1837
- Metaphyseal chondrodysplasia, Spahr type ORPHA:2501
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome ORPHA:2502
- Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ORPHA:2504
- Cartilage-hair hypoplasia ORPHA:175
- Shwachman-Diamond syndrome ORPHA:811
- Metaphyseal chondrodysplasia, Jansen type ORPHA:33067
- Metaphyseal chondrodysplasia, Kaitila type ORPHA:166038
- Eiken syndrome ORPHA:79106
- Spondylodysplastic dysplasia ORPHA:93434
- Opsismodysplasia ORPHA:2746
- Achondrogenesis ORPHA:932
- Achondrogenesis type 2 ORPHA:93296
- Hypochondrogenesis ORPHA:93297
- Achondrogenesis type 1B ORPHA:93298
- Achondrogenesis type 1A ORPHA:93299
- Brachyolmia ORPHA:1293
- Autosomal recessive brachyolmia ORPHA:448242
- Brachyolmia-amelogenesis imperfecta syndrome ORPHA:2899
- Brachyolmia, Maroteaux type ORPHA:93302
- Autosomal dominant brachyolmia ORPHA:93304
- X-linked skeletal dysplasia-intellectual disability syndrome ORPHA:1436
- Schneckenbecken dysplasia ORPHA:3144
- Spondylocamptodactyly syndrome ORPHA:3180
- Spondylocarpotarsal synostosis ORPHA:3275
- Diaphanospondylodysostosis ORPHA:66637
- Platyspondylic dysplasia, Torrance type ORPHA:85166
- Spondylometaphyseal dysplasia, Sedaghatian type ORPHA:93317
- Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type ORPHA:401979
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome ORPHA:508533
- SBDS-related severe neonatal spondylometaphyseal dysplasia ORPHA:622934
- Acromelic dysplasia ORPHA:93436
- Short stature-brachydactyly-obesity-global developmental delay syndrome ORPHA:464288
- MIR140-related spondyloepiphyseal dysplasia ORPHA:623695
- Pseudohypoparathyroidism with Albright hereditary osteodystrophy ORPHA:457059
- Pseudohypoparathyroidism type 1A ORPHA:79443
- Pseudohypoparathyroidism type 1C ORPHA:79444
- Pseudopseudohypoparathyroidism ORPHA:79445
- Acrodysostosis ORPHA:950
- Acromicric dysplasia ORPHA:969
- Geleophysic dysplasia ORPHA:2623
- Intellectual disability-balding-patella luxation-acromicria syndrome ORPHA:3041
- Angel-shaped phalango-epiphyseal dysplasia ORPHA:63442
- Acrocapitofemoral dysplasia ORPHA:63446
- Craniofacial conodysplasia ORPHA:85168
- Terminal osseous dysplasia-pigmentary defects syndrome ORPHA:88630
- Trichorhinophalangeal syndrome ORPHA:324764
- Weill-Marchesani syndrome ORPHA:3449
- Myhre syndrome ORPHA:2588
- Acromesomelic dysplasia ORPHA:93437
- Acromesomelic dysplasia, Hunter-Thompson type ORPHA:968
- Acromesomelic dysplasia, Maroteaux type ORPHA:40
- Acromesomelic dysplasia, Grebe type ORPHA:2098
- Mesomelia-synostoses syndrome ORPHA:2496
- Fibular aplasia-complex brachydactyly syndrome ORPHA:2639
- Brachydactyly type A6 ORPHA:93382
- Mesomelic and rhizo-mesomelic dysplasia ORPHA:93438
- Léri-Weill dyschondrosteosis ORPHA:240
- Cleidorhizomelic syndrome ORPHA:1453
- Mesomelic dysplasia, Kantaputra type ORPHA:1836
- Fibrochondrogenesis ORPHA:2021
- Upper limb mesomelic dysplasia, type Fryns ORPHA:2497
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome ORPHA:2631
- Langer mesomelic dysplasia ORPHA:2632
- Mesomelic dysplasia, Nievergelt type ORPHA:2633
- Mesomelic dwarfism, Reinhardt-Pfeiffer type ORPHA:2634
- Omodysplasia ORPHA:2733
- Rhizomelic syndrome, Urbach type ORPHA:3098
- Rhizomelic dysplasia, Patterson-Lowry type ORPHA:2831
- Atelosteogenesis type II ORPHA:56304
- Mesomelic dysplasia, Savarirayan type ORPHA:85170
- Robinow syndrome ORPHA:97360
- SHOX-related short stature ORPHA:314795
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome ORPHA:397623
- Colobomatous microphthalmia-rhizomelic dysplasia syndrome ORPHA:424099
- Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome ORPHA:440354
- X-linked dominant chondrodysplasia, Chassaing-Lacombe type ORPHA:163966
- EN1-related dorsoventral syndrome ORPHA:611223
- QRICH1-related intellectual disability-chondrodysplasia syndrome ORPHA:580940
- Mesomelic dysplasia-digital anomalies-intellectual disability syndrome ORPHA:632603
- Campomelic dysplasia and related disorders ORPHA:93439
- Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency ORPHA:656283
- Campomelic dysplasia ORPHA:140
- Campomelia, Cumming type ORPHA:1318
- Kyphomelic dysplasia ORPHA:1801
- Blount disease ORPHA:2768
- Weismann-Netter syndrome ORPHA:3344
- Stüve-Wiedemann syndrome ORPHA:3206
- FGFR2-related bent bone dysplasia ORPHA:313855
- Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome ORPHA:324307
- Slender bone dysplasia ORPHA:93440
- Kenny-Caffey syndrome ORPHA:2333
- Autosomal recessive Kenny-Caffey syndrome ORPHA:93324
- Autosomal dominant Kenny-Caffey syndrome ORPHA:93325
- 3M syndrome ORPHA:2616
- Osteocraniostenosis ORPHA:2763
- IMAGe syndrome ORPHA:85173
- Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome ORPHA:314394
- Ear-patella-short stature syndrome ORPHA:2554
- Thin ribs-tubular bones-dysmorphism syndrome ORPHA:1506
- Hallermann-Streiff syndrome ORPHA:2108
- Seckel syndrome ORPHA:808
- Microcephalic primordial dwarfism, Toriello type ORPHA:2643
- Microcephalic osteodysplastic primordial dwarfism type II ORPHA:2637
- Lipodystrophy-intellectual disability-deafness syndrome ORPHA:50811
- Microcephalic osteodysplastic primordial dwarfism types I and III ORPHA:2636
- Microcephalic osteodysplastic dysplasia, Saul-Wilson type ORPHA:85172
- Hallermann-Streiff-like syndrome ORPHA:2109
- DONSON-related microcephaly-short stature-limb abnormalities spectrum ORPHA:572761
- Primary bone dysplasia with multiple joint dislocations ORPHA:93441
- Larsen-like osseous dysplasia-short stature syndrome ORPHA:2370
- Atelosteogenesis type I ORPHA:1190
- Auriculoosteodysplasia ORPHA:114
- Boomerang dysplasia ORPHA:1263
- Desbuquois syndrome ORPHA:1425
- Coxoauricular syndrome ORPHA:1508
- Lethal Larsen-like syndrome ORPHA:2371
- Larsen syndrome ORPHA:503
- Atelosteogenesis type III ORPHA:56305
- Pseudodiastrophic dysplasia ORPHA:85174
- CHST3-related skeletal dysplasia ORPHA:263463
- Chondrodysplasia with joint dislocations, gPAPP type ORPHA:280586
- Larsen-like syndrome, B3GAT3 type ORPHA:284139
- Steel syndrome ORPHA:438117
- Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type ORPHA:93360
- Severe myopia-generalized joint laxity-short stature syndrome ORPHA:527450
- Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome ORPHA:589442
- Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type ORPHA:642099
- EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity ORPHA:642085
- Chondrodysplasia punctata ORPHA:93442
- Greenberg dysplasia ORPHA:1426
- CHILD syndrome ORPHA:139
- Rhizomelic chondrodysplasia punctata ORPHA:177
- Rhizomelic chondrodysplasia punctata type 3 ORPHA:309803
- Rhizomelic chondrodysplasia punctata type 1 ORPHA:309789
- Rhizomelic chondrodysplasia punctata type 2 ORPHA:309796
- Rhizomelic chondrodysplasia punctata type 5 ORPHA:468717
- Non-rhizomelic chondrodysplasia punctata ORPHA:176
- X-linked dominant chondrodysplasia punctata ORPHA:35173
- Brachytelephalangic chondrodysplasia punctata ORPHA:79345
- Chondrodysplasia punctata, tibial-metacarpal type ORPHA:79346
- Chondrodysplasia punctata, Toriello type ORPHA:79347
- Astley-Kendall dysplasia ORPHA:85175
- Keutel syndrome ORPHA:85202
- Primary bone dysplasia with increased bone density ORPHA:93444
- Juvenile Paget disease ORPHA:2801
- Camurati-Engelmann disease ORPHA:1328
- Craniodiaphyseal dysplasia ORPHA:1513
- Craniometaphyseal dysplasia ORPHA:1522
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome ORPHA:1798
- Ghosal hematodiaphyseal dysplasia ORPHA:1802
- Lenz-Majewski hyperostotic dwarfism ORPHA:2658
- Oculodentodigital dysplasia ORPHA:2710
- Osteopathia striata-pigmentary dermopathy-white forelock syndrome ORPHA:2779
- Endosteal hyperostosis, Worth type ORPHA:2790
- Pyle disease ORPHA:3005
- Sclerosteosis ORPHA:3152
- Tricho-dento-osseous syndrome ORPHA:3352
- Hyperostosis corticalis generalisata ORPHA:3416
- Dysplastic cortical hyperostosis ORPHA:646139
- Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type ORPHA:2204
- Dysplastic cortical hyperostosis, Al-Gazali type ORPHA:646136
- Osteopetrosis and related disorders ORPHA:2781
- 12q14 microdeletion syndrome ORPHA:94063
- Isolated osteopoikilosis ORPHA:166119
- Osteopetrosis-hypogammaglobulinemia syndrome ORPHA:178389
- Intermediate osteopetrosis ORPHA:210110
- Albers-Schönberg osteopetrosis ORPHA:53
- Osteopetrosis with renal tubular acidosis ORPHA:2785
- Pycnodysostosis ORPHA:763
- Dysosteosclerosis ORPHA:1782
- Melorheostosis with osteopoikilosis ORPHA:1879
- Melorheostosis ORPHA:2485
- Osteomesopyknosis ORPHA:2777
- Osteopathia striata-cranial sclerosis syndrome ORPHA:2780
- Autosomal recessive malignant osteopetrosis ORPHA:667
- Autosomal dominant osteopetrosis type 1 ORPHA:2783
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ORPHA:69088
- Infantile osteopetrosis with neuroaxonal dysplasia ORPHA:85179
- Leukocyte adhesion deficiency type III ORPHA:99844
- Osteosclerotic metaphyseal dysplasia ORPHA:500548
- Early-onset calcifying leukoencephalopathy-skeletal dysplasia ORPHA:556985
- Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome ORPHA:603494
- Osteosclerosis-ichthyosis-premature ovarian failure syndrome ORPHA:75325
- Diaphyseal medullary stenosis-bone malignancy syndrome ORPHA:85182
- Craniometadiaphyseal dysplasia, wormian bone type ORPHA:85184
- Endosteal sclerosis-cerebellar hypoplasia syndrome ORPHA:85186
- Metaphyseal dysplasia, Braun-Tinschert type ORPHA:85188
- Neonatal osteosclerotic dysplasia ORPHA:93443
- Caffey disease ORPHA:1310
- Osteosclerotic bone dysplasia ORPHA:1832
- Desmosterolosis ORPHA:35107
- Blomstrand lethal chondrodysplasia ORPHA:50945
- Primary hypertrophic osteoarthropathy ORPHA:248095
- High bone mass osteogenesis imperfecta ORPHA:314029
- Mixed sclerosing bone dystrophy with extra-skeletal manifestations ORPHA:324364
- X-linked calvarial hyperostosis ORPHA:391327
- Hyperostosis cranialis interna ORPHA:443098
- Primary bone dysplasia with decreased bone density ORPHA:93446
- Bruck syndrome ORPHA:2771
- Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome ORPHA:2772
- Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome ORPHA:2773
- Osteogenesis imperfecta ORPHA:666
- Osteogenesis imperfecta type 1 ORPHA:216796
- Osteogenesis imperfecta type 2 ORPHA:216804
- Osteogenesis imperfecta type 3 ORPHA:216812
- Osteogenesis imperfecta type 4 ORPHA:216820
- Osteogenesis imperfecta type 5 ORPHA:216828
- Cole-Carpenter syndrome ORPHA:2050
- Geroderma osteodysplastica ORPHA:2078
- Grant syndrome ORPHA:2097
- Osteopenia-intellectual disability-sparse hair syndrome ORPHA:2324
- Osteoporosis-oculocutaneous hypopigmentation syndrome ORPHA:2786
- Osteoporosis-pseudoglioma syndrome ORPHA:2788
- Complex lethal osteochondrodysplasia ORPHA:457378
- Gnathodiaphyseal dysplasia ORPHA:53697
- Singleton-Merten dysplasia ORPHA:85191
- Calvarial doughnut lesions-bone fragility syndrome ORPHA:85192
- Idiopathic juvenile osteoporosis ORPHA:85193
- Spondylo-ocular syndrome ORPHA:85194
- Autosomal recessive cutis laxa type 2 ORPHA:90350
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- Autosomal recessive cutis laxa type 2B ORPHA:357064
- Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia ORPHA:166277
- Ehlers-Danlos/osteogenesis imperfecta syndrome ORPHA:230857
- TMEM165-CDG ORPHA:314667
- Chondroectodermal dysplasia with night blindness ORPHA:319195
- X-linked osteoporosis with fractures ORPHA:391330
- LRP5-related primary osteoporosis ORPHA:498481
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:536467
- Classical-like Ehlers-Danlos syndrome type 2 ORPHA:536532
- Primary bone dysplasia with defective bone mineralization ORPHA:93447
- Oculoskeletodental syndrome ORPHA:557003
- Hypophosphatasia ORPHA:436
- Perinatal lethal hypophosphatasia ORPHA:247623
- Prenatal benign hypophosphatasia ORPHA:247638
- Infantile hypophosphatasia ORPHA:247651
- Childhood-onset hypophosphatasia ORPHA:247667
- Adult hypophosphatasia ORPHA:247676
- Odontohypophosphatasia ORPHA:247685
- Neonatal severe primary hyperparathyroidism ORPHA:417
- Familial hypocalciuric hypercalcemia ORPHA:405
- Familial hypocalciuric hypercalcemia type 1 ORPHA:93372
- Familial hypocalciuric hypercalcemia type 2 ORPHA:101049
- Familial hypocalciuric hypercalcemia type 3 ORPHA:101050
- Lipodystrophy-intellectual disability-deafness syndrome ORPHA:50811
- Ossification anomalies-psychomotor developmental delay syndrome ORPHA:73230
- Eiken syndrome ORPHA:79106
- Disorders of vitamin D metabolism ORPHA:289098
- Hypophosphatemic rickets ORPHA:437
- Dent disease ORPHA:1652
- Cystinosis ORPHA:213
- Infantile nephropathic cystinosis ORPHA:411629
- Juvenile nephropathic cystinosis ORPHA:411634
- Ocular cystinosis ORPHA:411641
- Dominant hypophosphatemia with nephrolithiasis or osteoporosis ORPHA:244305
- X-linked hypophosphatemia ORPHA:89936
- Autosomal dominant hypophosphatemic rickets ORPHA:89937
- Hereditary hypophosphatemic rickets with hypercalciuria ORPHA:157215
- Autosomal recessive hypophosphatemic rickets ORPHA:289176
- Hypocalcemic rickets ORPHA:289103
- Familial calcium pyrophosphate deposition ORPHA:1416
- Primary osteolysis ORPHA:93449
- Mandibuloacral dysplasia associated to MTX2 ORPHA:647667
- Hyaline fibromatosis syndrome ORPHA:498474
- Hajdu-Cheney syndrome ORPHA:955
- Epiphyseal stippling-osteoclastic hyperplasia syndrome ORPHA:1952
- Mandibuloacral dysplasia ORPHA:2457
- Mandibuloacral dysplasia with type A lipodystrophy ORPHA:90153
- Mandibuloacral dysplasia with type B lipodystrophy ORPHA:90154
- Multicentric carpo-tarsal osteolysis with or without nephropathy ORPHA:2774
- Autosomal recessive distal osteolysis syndrome ORPHA:2776
- Hutchinson-Gilford progeria syndrome ORPHA:740
- Talo-patello-scaphoid osteolysis ORPHA:50809
- Familial expansile osteolysis ORPHA:85195
- Nestor-Guillermo progeria syndrome ORPHA:280576
- Phalangeal microgeodic syndrome ORPHA:352636
- Multicentric osteolysis-nodulosis-arthropathy spectrum ORPHA:371428
- Primary bone dysplasia with disorganized development of skeletal components ORPHA:93450
- Gorham-Stout disease ORPHA:73
- Neurofibromatosis type 1 ORPHA:636
- 17q11 microdeletion syndrome ORPHA:97685
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion ORPHA:363700
- Fibrodysplasia ossificans progressiva ORPHA:337
- Progressive osseous heteroplasia ORPHA:2762
- Fibrous dysplasia/McCune-Albright syndrome ORPHA:595216
- Cherubism ORPHA:184
- Dysplasia epiphysealis hemimelica ORPHA:1822
- Exostoses-anetodermia-brachydactyly type E syndrome ORPHA:1962
- Ollier disease ORPHA:296
- Metachondromatosis ORPHA:2499
- Osteoglosphonic dysplasia ORPHA:2645
- Carpotarsal osteochondromatosis ORPHA:2767
- Short stature, Brussels type ORPHA:2867
- Ramon syndrome ORPHA:3019
- Upington disease ORPHA:3408
- Nasu-Hakola disease ORPHA:2770
- Multiple osteochondromas ORPHA:321
- Gnathodiaphyseal dysplasia ORPHA:53697
- Mazabraud syndrome ORPHA:57782
- Genochondromatosis type 1 ORPHA:85197
- Dysspondyloenchondromatosis ORPHA:85198
- Genochondromatosis type 2 ORPHA:93398
- Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria ORPHA:99646
- Osteofibrous dysplasia ORPHA:488265
- Maffucci syndrome ORPHA:163634
- Cleidocranial dysplasia and isolated cranial ossification defect ORPHA:93451
- Parietal foramina with clavicular hypoplasia ORPHA:251290
- Cleidocranial dysplasia ORPHA:1452
- Delayed membranous cranial ossification ORPHA:3034
- Yunis-Varon syndrome ORPHA:3472
- Enlarged parietal foramina ORPHA:60015
- Craniosynostosis-anal anomalies-porokeratosis syndrome ORPHA:85199
- Lethal chondrodysplasia ORPHA:93465
- Bone dysplasia, lethal Holmgren type ORPHA:1842
- Lethal Kniest-like dysplasia ORPHA:2347
- Pyknoachondrogenesis ORPHA:3003
- Lethal recessive chondrodysplasia ORPHA:1423
- Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments ORPHA:364531
- Dysostosis ORPHA:364559
- Craniosynostosis ORPHA:1531
- Non-syndromic craniosynostosis ORPHA:139390
- Non-syndromic unisutural craniosynostosis ORPHA:620096
- Non-syndromic unicoronal craniosynostosis ORPHA:620102
- Non-syndromic unilambdoid craniosynostosis ORPHA:620113
- Non-syndromic unifrontosphenoidal craniosynostosis ORPHA:620139
- Non-syndromic unisquamosal craniosynostosis ORPHA:620146
- Non-syndromic metopic craniosynostosis ORPHA:3366
- Non-syndromic sagittal craniosynostosis ORPHA:35093
- Non-syndromic multisutural craniosynostosis ORPHA:620152
- Non-syndromic non-specific multisutural craniosynostosis ORPHA:620158
- Non-syndromic bilambdoid craniosynostosis ORPHA:620178
- Non-syndromic unicoronal and sagittal craniosynostosis ORPHA:620186
- Non-syndromic metopic and sagittal craniosynostosis ORPHA:620192
- Non-syndromic bicoronal and metopic craniosynostosis ORPHA:620198
- Non-syndromic bicoronal and sagittal craniosynostosis ORPHA:620205
- Non-syndromic pansynostosis ORPHA:620212
- Non-syndromic bicoronal craniosynostosis ORPHA:35099
- Non-syndromic bilambdoid and sagittal craniosynostosis ORPHA:1516
- Syndromic craniosynostosis ORPHA:139393
- Crouzon syndrome ORPHA:207
- C syndrome ORPHA:1308
- Apert syndrome ORPHA:87
- Antley-Bixler syndrome ORPHA:83
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis ORPHA:596008
- Baller-Gerold syndrome ORPHA:1225
- Cranioectodermal dysplasia ORPHA:1515
- Craniosynostosis, Philadelphia type ORPHA:1527
- Craniotelencephalic dysplasia ORPHA:1528
- Jackson-Weiss syndrome ORPHA:1540
- Curry-Jones syndrome ORPHA:1553
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome ORPHA:1555
- Craniosynostosis, Herrmann-Opitz type ORPHA:2145
- Holoprosencephaly-craniosynostosis syndrome ORPHA:2163
- Lowry-MacLean syndrome ORPHA:2409
- Shprintzen-Goldberg syndrome ORPHA:2462
- Cardiocranial syndrome, Pfeiffer type ORPHA:2872
- SCARF syndrome ORPHA:3134
- FGFR2-related bent bone dysplasia ORPHA:313855
- Trigonocephaly-broad thumbs syndrome ORPHA:3365
- Trigonocephaly-short stature-developmental delay syndrome ORPHA:3369
- X-linked intellectual disability-plagiocephaly syndrome ORPHA:2898
- Craniosynostosis, Boston type ORPHA:1541
- Craniomicromelic syndrome ORPHA:1524
- Craniosynostosis-intracranial calcifications syndrome ORPHA:52054
- Muenke syndrome ORPHA:53271
- Infantile hypophosphatasia ORPHA:247651
- Craniosynostosis-anal anomalies-porokeratosis syndrome ORPHA:85199
- Crouzon syndrome-acanthosis nigricans syndrome ORPHA:93262
- Cloverleaf skull-multiple congenital anomalies syndrome ORPHA:93267
- Prenatal benign hypophosphatasia ORPHA:247638
- Cloverleaf skull-asphyxiating thoracic dysplasia syndrome ORPHA:100978
- Familial scaphocephaly syndrome ORPHA:169163
- Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome ORPHA:1538
- Familial scaphocephaly syndrome, McGillivray type ORPHA:168624
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome ORPHA:171839
- Osteosclerosis-developmental delay-craniosynostosis syndrome ORPHA:178377
- Acrocephalopolydactyly ORPHA:221054
- Craniosynostosis-dental anomalies ORPHA:284149
- Lethal occipital encephalocele-skeletal dysplasia syndrome ORPHA:293925
- Childhood-onset hypophosphatasia ORPHA:247667
- 3MC syndrome ORPHA:293843
- Mucopolysaccharidosis ORPHA:79213
- Mucopolysaccharidosis type 6 ORPHA:583
- Mucopolysaccharidosis type 6, rapidly progressing ORPHA:276212
- Mucopolysaccharidosis type 6, slowly progressing ORPHA:276223
- Mucopolysaccharidosis type 7 ORPHA:584
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Mucopolysaccharidosis type 1 ORPHA:579
- Mucopolysaccharidosis type 3 ORPHA:581
- Sanfilippo syndrome type A ORPHA:79269
- Sanfilippo syndrome type B ORPHA:79270
- Sanfilippo syndrome type C ORPHA:79271
- Sanfilippo syndrome type D ORPHA:79272
- Mucopolysaccharidosis type 4 ORPHA:582
- Hyaluronidase deficiency ORPHA:67041
- Mucopolysaccharidosis type 10 ORPHA:662216
- Noonan syndrome ORPHA:648
- Osteoglosphonic dysplasia ORPHA:2645
- Williams syndrome ORPHA:904
- Radioulnar synostosis-developmental delay-hypotonia syndrome ORPHA:3270
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome ORPHA:369837
- Craniofrontonasal dysplasia ORPHA:1520
- Carpenter syndrome ORPHA:65759
- Thanatophoric dysplasia ORPHA:2655
- Pycnodysostosis ORPHA:763
- Coffin-Siris syndrome ORPHA:1465
- Acrocallosal syndrome ORPHA:36
- Dubowitz syndrome ORPHA:235
- Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome ORPHA:647681
- Craniosynostosis-microretrognathia-severe intellectual disability syndrome ORPHA:565858
- Craniosynostosis-facial dysmorphism-brachydactyly syndrome ORPHA:672979
- Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome ORPHA:672985
- KBG syndrome ORPHA:2332
- Koolen-De Vries syndrome ORPHA:96169
- 17q21.31 microdeletion syndrome ORPHA:363958
- Koolen-De Vries syndrome due to a point mutation ORPHA:363965
- Bohring-Opitz syndrome ORPHA:97297
- Fetal valproate spectrum disorder ORPHA:1906
- Pfeiffer syndrome ORPHA:710
- Pfeiffer syndrome type 1 ORPHA:93258
- Pfeiffer syndrome type 2 ORPHA:93259
- Pfeiffer syndrome type 3 ORPHA:93260
- Saethre-Chotzen syndrome ORPHA:794
- Congenital pseudoarthrosis of the clavicle ORPHA:66630
- Dysostosis with predominant craniofacial involvement ORPHA:93453
- Cantú syndrome ORPHA:1517
- Oculomaxillofacial dysostosis ORPHA:1794
- Frontonasal dysplasia ORPHA:250
- SPECC1L-related hypertelorism syndrome ORPHA:1519
- Craniofrontonasal dysplasia ORPHA:1520
- Craniofrontonasal dysplasia-Poland anomaly syndrome ORPHA:1521
- Pai syndrome ORPHA:1993
- Frontofacionasal dysplasia ORPHA:1791
- Acromelic frontonasal dysplasia ORPHA:1827
- Frontonasal dysplasia-alopecia-genital anomalies syndrome ORPHA:228390
- Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome ORPHA:306542
- Frontorhiny ORPHA:391474
- Oculoauriculofrontonasal syndrome ORPHA:398156
- SIX2-related frontonasal dysplasia ORPHA:488437
- Craniorhiny ORPHA:157832
- Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome ORPHA:521308
- Oculoauriculovertebral spectrum with radial defects ORPHA:2549
- Familial osteodysplasia, Anderson type ORPHA:2769
- Teebi-Shaltout syndrome ORPHA:3291
- Craniofaciofrontodigital syndrome ORPHA:363705
- Otomandibular dysplasia ORPHA:155896
- Auriculocondylar syndrome ORPHA:137888
- Oculo-auriculo-vertebral spectrum ORPHA:141132
- Mandibulofacial dysostosis ORPHA:155899
- Treacher-Collins syndrome ORPHA:861
- Acrodysostosis ORPHA:950
- Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome ORPHA:357158
- Mandibulofacial dysostosis with alopecia ORPHA:443995
- Otomandibular dysplasia associated with monogenic syndromes ORPHA:156202
- Orofaciodigital syndrome ORPHA:140997
- Orofaciodigital syndrome type 1 ORPHA:2750
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Orofaciodigital syndrome type 8 ORPHA:2755
- Orofaciodigital syndrome type 5 ORPHA:2919
- Orofaciodigital syndrome type 11 ORPHA:141000
- Orofaciodigital syndrome type 9 ORPHA:141007
- Orofaciodigital syndrome type 14 ORPHA:434179
- Oral-facial-digital syndrome with short stature and brachymesophalangy ORPHA:508501
- Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome ORPHA:459061
- Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome ORPHA:314555
- Dobrow syndrome ORPHA:3262
- Dysostosis with predominant vertebral and costal involvement ORPHA:93454
- Autosomal recessive spondylocostal dysostosis ORPHA:2311
- Currarino syndrome ORPHA:1552
- Cerebrocostomandibular syndrome ORPHA:1393
- Cerebrofaciothoracic dysplasia ORPHA:1394
- Ankylosing vertebral hyperostosis with tylosis ORPHA:2206
- Melhem-Fahl syndrome ORPHA:2482
- Imperforate oropharynx-costovertebral anomalies syndrome ORPHA:2759
- Pelvic dysplasia-arthrogryposis of lower limbs syndrome ORPHA:2840
- Autosomal dominant spondylocostal dysostosis ORPHA:1797
- Wildervanck syndrome ORPHA:3456
- Progressive non-infectious anterior vertebral fusion ORPHA:2062
- Isolated Klippel-Feil syndrome ORPHA:2345
- Diaphanospondylodysostosis ORPHA:66637
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome ORPHA:85164
- Horizontal gaze palsy with progressive scoliosis ORPHA:2744
- Tall stature-long halluces-multiple extra-epiphyses syndrome ORPHA:329191
- Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome ORPHA:447974
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders ORPHA:505248
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome ORPHA:453499
- Patellar dysostosis ORPHA:93455
- Nail-patella syndrome ORPHA:2614
- Coxopodopatellar syndrome ORPHA:1509
- Ear-patella-short stature syndrome ORPHA:2554
- Isolated patella aplasia/hypoplasia ORPHA:86789
- Familial clubfoot due to PITX1 point mutation ORPHA:293150
- KAT6B-related multiple congenital anomalies syndrome ORPHA:597749
- Dysostosis with limb anomaly as a major feature ORPHA:364568
- Camptodactyly syndrome, Guadalajara type 3 ORPHA:488434
- Tel Hashomer camptodactyly syndrome ORPHA:3292
- Ectrodactyly with and without other manifestations ORPHA:498477
- EEM syndrome ORPHA:1897
- Limb-mammary syndrome ORPHA:69085
- Fibular aplasia-ectrodactyly syndrome ORPHA:1118
- Ectrodactyly-polydactyly syndrome ORPHA:1892
- Charlie M syndrome ORPHA:1406
- Gollop-Wolfgang complex ORPHA:1986
- EEC syndrome ORPHA:1896
- ADULT syndrome ORPHA:978
- Isolated split hand-split foot malformation ORPHA:2440
- Tibial aplasia-ectrodactyly syndrome ORPHA:3329
- Hartsfield syndrome ORPHA:2117
- Patterson-Stevenson-Fontaine syndrome ORPHA:2439
- Dysostosis with brachydactyly ORPHA:69028
- Dysostosis with brachydactyly without extraskeletal manifestations ORPHA:498451
- Symbrachydactyly of hands and feet ORPHA:1570
- Preaxial digit brachydactyly-webbed fingers ORPHA:633211
- Brachydactyly type A2 ORPHA:93396
- Brachydactyly type A4 ORPHA:93394
- Brachydactyly type A6 ORPHA:93382
- Brachydactyly type A7 ORPHA:93397
- Sugarman brachydactyly ORPHA:498602
- Mononen-Karnes-Senac syndrome ORPHA:2565
- Familial digital arthropathy-brachydactyly ORPHA:85169
- Brachydactyly-elbow wrist dysplasia syndrome ORPHA:1275
- Brachydactyly type A1 ORPHA:93388
- Brachydactyly type B ORPHA:93383
- Brachydactyly type C ORPHA:93384
- Brachydactyly type E ORPHA:93387
- Cooks syndrome ORPHA:1487
- Camptobrachydactyly ORPHA:1319
- Dysostosis with brachydactyly with extraskeletal manifestations ORPHA:498454
- Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies ORPHA:589608
- Brachydactyly-short stature-retinitis pigmentosa syndrome ORPHA:166035
- Mammary-digital-nail syndrome ORPHA:238744
- 2q37 microdeletion syndrome ORPHA:1001
- Hyperphosphatasia-intellectual disability syndrome ORPHA:247262
- Brachydactyly-arterial hypertension syndrome ORPHA:1276
- Temtamy preaxial brachydactyly syndrome ORPHA:363417
- Coffin-Siris syndrome ORPHA:1465
- Microcephaly-brachydactyly-kyphoscoliosis syndrome ORPHA:3433
- Thumb stiffness-brachydactyly-intellectual disability syndrome ORPHA:1078
- Brachydactyly-preaxial hallux varus syndrome ORPHA:1278
- Acrodysplasia scoliosis ORPHA:2956
- Brachymorphism-onychodysplasia-dysphalangism syndrome ORPHA:1292
- Skeletal dysplasia-epilepsy-short stature syndrome ORPHA:1858
- Brachydactyly-long thumb syndrome ORPHA:2946
- Ulnar/fibula ray defect-brachydactyly syndrome ORPHA:52056
- Feingold syndrome ORPHA:1305
- Hand-foot-genital syndrome ORPHA:2438
- Brachytelephalangy-dysmorphism-Kallmann syndrome ORPHA:1295
- Poland syndrome ORPHA:2911
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- Adams-Oliver syndrome ORPHA:974
- Non-syndromic limb reduction defect ORPHA:93457
- Non-syndromic longitudinal limb defect ORPHA:498457
- Non-syndromic hemimelia ORPHA:2130
- Isolated ulnar hemimelia ORPHA:93320
- Isolated radial hemimelia ORPHA:93321
- Isolated tibial hemimelia ORPHA:93322
- Isolated fibular hemimelia ORPHA:93323
- Isolated hypoplasia of thumb ORPHA:294988
- Non-syndromic terminal transverse limb defect ORPHA:498461
- Non-syndromic amelia ORPHA:294925
- Isolated amelia of upper limb ORPHA:294967
- Isolated amelia of lower limb ORPHA:294969
- Isolated tetra-amelia ORPHA:294971
- Isolated absence/hypoplasia of fingers excluding thumb, unilateral ORPHA:973
- Non-syndromic complete hemimelia ORPHA:498491
- Isolated absence of both lower leg and foot ORPHA:294981
- Isolated absence of both forearm and hand ORPHA:294979
- Isolated acheiria ORPHA:294983
- Isolated apodia ORPHA:294986
- Isolated acheiropodia ORPHA:931
- Non-syndromic intercalary limb defects ORPHA:294927
- Isolated humeral agenesis/hypoplasia ORPHA:294973
- Isolated absence of upper arm and forearm with hand present ORPHA:294975
- Isolated absence of thigh and lower leg with foot present ORPHA:294977
- Isolated femoral agenesis/hypoplasia ORPHA:1987
- Isolated proximal femoral focal deficiency ORPHA:633228
- Isolated congenital femoral bifurcation ORPHA:667589
- Non-syndromic polydactyly, syndactyly and/or hyperphalangy ORPHA:93458
- Non-syndromic polydactyly ORPHA:2913
- Non-syndromic preaxial polydactyly ORPHA:498464
- Polydactyly of a triphalangeal thumb ORPHA:93336
- Polydactyly of an index finger ORPHA:93337
- Polysyndactyly ORPHA:93338
- Polydactyly of a biphalangeal thumb and/or hallux ORPHA:93339
- Non-syndromic postaxial polydactyly ORPHA:498467
- Non-syndromic complex polydactyly ORPHA:498470
- Non-syndromic syndactyly ORPHA:90025
- Syndactyly type 8 ORPHA:2498
- Syndactyly type 1 ORPHA:93402
- Zygodactyly type 1 ORPHA:295187
- Zygodactyly type 2 ORPHA:295189
- Zygodactyly type 3 ORPHA:295191
- Zygodactyly type 4 ORPHA:295193
- Syndactyly type 2 ORPHA:93403
- Synpolydactyly type 1 ORPHA:295195
- Synpolydactyly type 2 ORPHA:295197
- Synpolydactyly type 3 ORPHA:295199
- Syndactyly type 3 ORPHA:93404
- Syndactyly type 4 ORPHA:93405
- Syndactyly type 5 ORPHA:93406
- Mesoaxial synostotic syndactyly with phalangeal reduction ORPHA:157801
- Syndactyly type 6 ORPHA:295012
- Isolated hyperphalangy ORPHA:295002
- Syndrome with synostosis or other joint formation defect ORPHA:93459
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
- Banki syndrome ORPHA:1228
- Brachydactyly-elbow wrist dysplasia syndrome ORPHA:1275
- Tarsal-carpal coalition syndrome ORPHA:1412
- OSLAM syndrome ORPHA:2760
- Leri pleonosteosis ORPHA:2900
- Multiple synostoses syndrome ORPHA:3237
- Symphalangism with multiple anomalies of hands and feet ORPHA:3246
- Proximal symphalangism ORPHA:3250
- Radioulnar synostosis-microcephaly-scoliosis syndrome ORPHA:3268
- Radioulnar synostosis-developmental delay-hypotonia syndrome ORPHA:3270
- Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome ORPHA:71289
- WT limb-blood syndrome ORPHA:3466
- Isolated pseudoarthrosis of the limbs ORPHA:157808
- Congenital pseudoarthrosis of the tibia ORPHA:295018
- Congenital pseudoarthrosis of the femur ORPHA:295020
- Congenital pseudoarthrosis of the fibula ORPHA:295022
- Congenital pseudoarthrosis of the radius ORPHA:295024
- Congenital pseudoarthrosis of the ulna ORPHA:295026
- Familial clubfoot with or without associated lower limb anomalies ORPHA:199315
- Familial clubfoot due to 17q23.1q23.2 microduplication ORPHA:238578
- Familial clubfoot due to 5q31 microdeletion ORPHA:293144
- Familial clubfoot due to PITX1 point mutation ORPHA:293150
- Heart-hand syndrome ORPHA:228184
- Holt-Oram syndrome ORPHA:392
- Heart-hand syndrome type 3 ORPHA:1342
- Heart-hand syndrome type 2 ORPHA:1350
- Brachydactyly-long thumb syndrome ORPHA:2946
- Heart-hand syndrome, Slovenian type ORPHA:168796
- Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome ORPHA:228190
- Carney complex-trismus-pseudocamptodactyly syndrome ORPHA:319340
- Non-syndromic joint formation defects ORPHA:294949
- Isolated distal symphalangism ORPHA:3248
- Isolated humero-radial synostosis ORPHA:3265
- Isolated humero-radio-ulnar synostosis ORPHA:3266
- Isolated radio-ulnar synostosis ORPHA:3269
- Isolated humero-ulnar synostosis ORPHA:94056
- Isolated tibio-fibular synostosis ORPHA:295028
- Syndrome with limb reduction defects ORPHA:294955
- Split-foot malformation-mesoaxial polydactyly syndrome ORPHA:488232
- Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome ORPHA:496693
- Heart defects-limb shortening syndrome ORPHA:1354
- Thrombocytopenia-absent radius syndrome ORPHA:3320
- Fanconi anemia ORPHA:84
- Roberts syndrome ORPHA:3103
- Adams-Oliver syndrome ORPHA:974
- ADULT syndrome ORPHA:978
- Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome ORPHA:988
- Hypoglossia-hypodactyly syndrome ORPHA:989
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ORPHA:1071
- Ankyloblepharon filiforme adnatum-cleft palate syndrome ORPHA:1072
- Ankyloblepharon filiforme adnatum-imperforate anus syndrome ORPHA:1074
- Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome ORPHA:1112
- Aphalangy-syndactyly-microcephaly syndrome ORPHA:1113
- Lethal faciocardiomelic dysplasia ORPHA:1972
- Gollop-Wolfgang complex ORPHA:1986
- Femoral-facial syndrome ORPHA:1988
- Splenogonadal fusion-limb defects-micrognathia syndrome ORPHA:2063
- Ulna hypoplasia-intellectual disability syndrome ORPHA:2249
- IVIC syndrome ORPHA:2307
- Absence deformity of leg-cataract syndrome ORPHA:2310
- Karsch-Neugebauer syndrome ORPHA:2329
- Holt-Oram syndrome ORPHA:392
- Tetramelic monodactyly ORPHA:2564
- Fibular aplasia-complex brachydactyly syndrome ORPHA:2639
- Postaxial tetramelic oligodactyly ORPHA:2730
- Pelvis-shoulder dysplasia ORPHA:2839
- Fuhrmann syndrome ORPHA:2854
- Phocomelia, Schinzel type ORPHA:2879
- Radio-renal syndrome ORPHA:3015
- Absent radius-anogenital anomalies syndrome ORPHA:3016
- RAPADILINO syndrome ORPHA:3021
- Ulnar-mammary syndrome ORPHA:3138
- Tetraamelia-multiple malformations syndrome ORPHA:3301
- Thalidomide embryopathy ORPHA:3312
- Absent tibia-polydactyly-arachnoid cyst syndrome ORPHA:3328
- Tibial aplasia-ectrodactyly syndrome ORPHA:3329
- Humerus trochlea aplasia ORPHA:3383
- Split hand-split foot-deafness syndrome ORPHA:71271
- Okihiro syndrome ORPHA:93293
- Okihiro syndrome due to 20q13 microdeletion ORPHA:261638
- Okihiro syndrome due to a point mutation ORPHA:261647
- Pelviscapular dysplasia ORPHA:93333
- Mammary-digital-nail syndrome ORPHA:238744
- Thrombocythemia with distal limb defects ORPHA:329319
- Cornelia de Lange syndrome ORPHA:199
- Intellectual disability-spasticity-ectrodactyly syndrome ORPHA:1891
- FATCO syndrome ORPHA:2492
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome ORPHA:508542
- Combined immunodeficiency with facio-oculo-skeletal anomalies ORPHA:221139
- Camptodactyly syndrome, Guadalajara type 2 ORPHA:1326
- Dysostosis with combined reduction defects of upper and lower limbs ORPHA:294957
- Fibular aplasia-ectrodactyly syndrome ORPHA:1118
- Radial deficiency-tibial hypoplasia syndrome ORPHA:1121
- Ulnar hypoplasia-split foot syndrome ORPHA:1122
- Gollop-Wolfgang complex ORPHA:1986
- Femur-fibula-ulna complex ORPHA:2019
- Tibial aplasia-ectrodactyly syndrome ORPHA:3329
- Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy ORPHA:294959
- Greig cephalopolysyndactyly-contiguous gene syndrome ORPHA:658805
- B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome ORPHA:567502
- Acropectoral syndrome ORPHA:85203
- Brachydactyly-syndactyly, Zhao type ORPHA:93409
- Syndactyly-telecanthus-anogenital and renal malformations syndrome ORPHA:140952
- Orofaciodigital syndrome ORPHA:140997
- Orofaciodigital syndrome type 1 ORPHA:2750
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Orofaciodigital syndrome type 8 ORPHA:2755
- Orofaciodigital syndrome type 5 ORPHA:2919
- Orofaciodigital syndrome type 11 ORPHA:141000
- Orofaciodigital syndrome type 9 ORPHA:141007
- Orofaciodigital syndrome type 14 ORPHA:434179
- Oral-facial-digital syndrome with short stature and brachymesophalangy ORPHA:508501
- Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome ORPHA:357332
- Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome ORPHA:369979
- Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ORPHA:420584
- Townes-Brocks syndrome ORPHA:857
- Meckel syndrome ORPHA:564
- Acrocallosal syndrome ORPHA:36
- Acropectorovertebral dysplasia ORPHA:957
- Scalp defects-postaxial polydactyly syndrome ORPHA:1003
- Aphalangy-syndactyly-microcephaly syndrome ORPHA:1113
- Catel-Manzke syndrome ORPHA:1388
- Craniosynostosis, Philadelphia type ORPHA:1527
- Dandy-Walker malformation-postaxial polydactyly syndrome ORPHA:1566
- Fibular dimelia-diplopodia syndrome ORPHA:1757
- Ectrodactyly-polydactyly syndrome ORPHA:1892
- Gollop-Wolfgang complex ORPHA:1986
- Greig cephalopolysyndactyly syndrome ORPHA:380
- Hallux varus-preaxial polysyndactyly syndrome ORPHA:2110
- Pallister-Hall syndrome ORPHA:672
- Lacrimoauriculodentodigital syndrome ORPHA:2363
- Laurin-Sandrow syndrome ORPHA:2378
- Fuhrmann syndrome ORPHA:2854
- Polydactyly-myopia syndrome ORPHA:2917
- Oliver syndrome ORPHA:2920
- Crossed polysyndactyly ORPHA:2935
- Triphalangeal thumbs-brachyectrodactyly syndrome ORPHA:2947
- Guttmacher syndrome ORPHA:2957
- Mirror polydactyly-vertebral segmentation-limbs defects syndrome ORPHA:3004
- Sillence syndrome ORPHA:3168
- Eyebrow duplication-syndactyly syndrome ORPHA:3172
- Symphalangism with multiple anomalies of hands and feet ORPHA:3246
- Filippi syndrome ORPHA:3255
- Cenani-Lenz syndrome ORPHA:3258
- Absent tibia-polydactyly-arachnoid cyst syndrome ORPHA:3328
- Syndactyly-polydactyly-ear lobe syndrome ORPHA:3259
- Smith-Lemli-Opitz syndrome ORPHA:818
- Split hand-split foot-deafness syndrome ORPHA:71271
- FATCO syndrome ORPHA:2492
- Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome ORPHA:476119
- Split-foot malformation-mesoaxial polydactyly syndrome ORPHA:488232
- Bipartite talus ORPHA:364198
- Dysostosis with limb and face anomalies as a major feature ORPHA:364571
- Oromandibular-limb hypogenesis syndrome ORPHA:2749
- Charlie M syndrome ORPHA:1406
- Hypoglossia-hypodactyly syndrome ORPHA:989
- Glossopalatine ankylosis ORPHA:141163
- Endocrine-cerebro-osteodysplasia syndrome ORPHA:199332
- Acrofacial dysostosis ORPHA:364574
- Nager syndrome ORPHA:245
- Postaxial acrofacial dysostosis ORPHA:246
- Acrocraniofacial dysostosis ORPHA:949
- Acrofacial dysostosis, Weyers type ORPHA:952
- X-linked mandibulofacial dysostosis ORPHA:1131
- Craniofrontonasal dysplasia ORPHA:1520
- Acrofrontofacionasal dysostosis ORPHA:1784
- Acrofacial dysostosis, Catania type ORPHA:1786
- Acrofacial dysostosis, Rodríguez type ORPHA:1788
- Patterson-Stevenson-Fontaine syndrome ORPHA:2439
- Acromelic frontonasal dysplasia ORPHA:1827
- Acrofacial dysostosis, Palagonia type ORPHA:1787
- Acrofacial dysostosis, Kennedy-Teebi type ORPHA:64542
- Mandibulofacial dysostosis-microcephaly syndrome ORPHA:79113
- Richieri Costa-Pereira syndrome ORPHA:3102
- Otoonychoperoneal syndrome ORPHA:2793
- External auditory canal atresia-vertical talus-hypertelorism syndrome ORPHA:3023
- Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome ORPHA:1321
- Camptodactyly-joint contractures-facial skeletal defects syndrome ORPHA:1323
- Malformation syndrome with short stature ORPHA:139021
- Williams syndrome ORPHA:904
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- Cornelia de Lange syndrome ORPHA:199
- Aarskog-Scott syndrome ORPHA:915
- Bloom syndrome ORPHA:125
- Dubowitz syndrome ORPHA:235
- Silver-Russell syndrome ORPHA:813
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 ORPHA:96182
- Silver-Russell syndrome due to 7p11.2p13 microduplication ORPHA:231137
- Silver-Russell syndrome due to an imprinting defect of 11p15 ORPHA:231140
- Silver-Russell syndrome due to 11p15 microduplication ORPHA:231144
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 ORPHA:231147
- Silver-Russell syndrome due to a point mutation ORPHA:397590
- Autosomal recessive faciodigitogenital syndrome ORPHA:1974
- Floating-Harbor syndrome ORPHA:2044
- Hallermann-Streiff syndrome ORPHA:2108
- Johanson-Blizzard syndrome ORPHA:2315
- Kabuki syndrome ORPHA:2322
- Kenny-Caffey syndrome ORPHA:2333
- Autosomal recessive Kenny-Caffey syndrome ORPHA:93324
- Autosomal dominant Kenny-Caffey syndrome ORPHA:93325
- Mulibrey nanism ORPHA:2576
- 3M syndrome ORPHA:2616
- SHORT syndrome ORPHA:3163
- Smith-Lemli-Opitz syndrome ORPHA:818
- Robinow syndrome ORPHA:97360
- Noonan syndrome and Noonan-related syndrome ORPHA:98733
- Noonan syndrome ORPHA:648
- Costello syndrome ORPHA:3071
- Noonan syndrome with multiple lentigines ORPHA:500
- Cardiofaciocutaneous syndrome ORPHA:1340
- Noonan syndrome-like disorder with loose anagen hair ORPHA:2701
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia ORPHA:363972
- Neurofibromatosis-Noonan syndrome ORPHA:638
- King-Denborough syndrome ORPHA:99741
- Biemond syndrome type 2 ORPHA:141333
- Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type ORPHA:217026
- Facial dysmorphism-immunodeficiency-livedo-short stature syndrome ORPHA:352712
- Short stature-optic atrophy-Pelger-Huët anomaly syndrome ORPHA:391677
- Cono-spondylar dysplasia ORPHA:420794
- Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome ORPHA:423306
- Colobomatous microphthalmia-rhizomelic dysplasia syndrome ORPHA:424099
- X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome ORPHA:431140
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome ORPHA:444077
- Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome ORPHA:459061
- Eng-Strom syndrome ORPHA:1937
- 1p35.2 microdeletion syndrome ORPHA:456298
- KBG syndrome ORPHA:2332
- X-linked intellectual disability-short stature-overweight syndrome ORPHA:457240
- Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome ORPHA:457365
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome ORPHA:457395
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome ORPHA:397623
- Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome ORPHA:1964
- Transketolase deficiency ORPHA:488618
- Hallermann-Streiff-like syndrome ORPHA:2109
- X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability ORPHA:480880
- Hydrocephalus-obesity-hypogonadism syndrome ORPHA:2183
- Oculo-palato-cerebral syndrome ORPHA:2714
- 8q24.3 microdeletion syndrome ORPHA:508488
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome ORPHA:508498
- Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ORPHA:494439
- Congenital generalized hypercontractile muscle stiffness syndrome ORPHA:476406
- DONSON-related microcephaly-short stature-limb abnormalities spectrum ORPHA:572761
- Microcephaly-micromelia syndrome ORPHA:572768
- Microcephaly-short stature-limb abnormalities syndrome ORPHA:572773
- Subaortic stenosis-short stature syndrome ORPHA:3191
- QRICH1-related intellectual disability-chondrodysplasia syndrome ORPHA:580940
- Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome ORPHA:589442
- Brachymorphism-onychodysplasia-dysphalangism syndrome ORPHA:1292
- Werner syndrome ORPHA:902
- Aplastic anemia-intellectual disability-dwarfism syndrome ORPHA:611216
- Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome ORPHA:611207
- Menke-Hennekam syndrome ORPHA:592574
- RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome ORPHA:686488
- KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome ORPHA:633004
- Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome ORPHA:659702
- MGP-related spondyloepiphyseal dysplasia ORPHA:664377
- Rauch-Steindl syndrome ORPHA:659642
- Overgrowth/obesity syndrome ORPHA:139024
- Overgrowth syndrome ORPHA:93460
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- Angioosteohypertrophic syndrome ORPHA:2346
- Proteus syndrome ORPHA:744
- Sotos syndrome ORPHA:821
- Sturge-Weber syndrome ORPHA:3205
- Simpson-Golabi-Behmel syndrome ORPHA:373
- Bannayan-Riley-Ruvalcaba syndrome ORPHA:109
- Diabetic embryopathy ORPHA:1926
- Isolated hemihyperplasia ORPHA:2128
- Ollier disease ORPHA:296
- Marshall-Smith syndrome ORPHA:561
- Perlman syndrome ORPHA:2849
- Neuroectodermal melanolysosomal disease ORPHA:33445
- Chromosomal disease with overgrowth ORPHA:93461
- Pallister-Killian syndrome ORPHA:884
- Trisomy 5p syndrome ORPHA:1742
- 4p16.3 microduplication syndrome ORPHA:96072
- 15q overgrowth syndrome ORPHA:314585
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome ORPHA:137608
- Overgrowth-macrocephaly-facial dysmorphism syndrome ORPHA:137634
- Maffucci syndrome ORPHA:163634
- Hypoinsulinemic hypoglycemia and body hemihypertrophy ORPHA:293964
- Tatton-Brown-Rahman syndrome ORPHA:404443
- 11p15.4 microduplication syndrome ORPHA:300305
- Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome ORPHA:404476
- Malan overgrowth syndrome ORPHA:420179
- Megalencephaly-severe kyphoscoliosis-overgrowth syndrome ORPHA:457359
- Luscan-Lumish syndrome ORPHA:597738
- PIK3CA-related overgrowth syndrome ORPHA:530313
- Megalencephaly-capillary malformation-polymicrogyria syndrome ORPHA:60040
- Hemihyperplasia-multiple lipomatosis syndrome ORPHA:276280
- Segmental progressive overgrowth syndrome with fibroadipose hyperplasia ORPHA:314662
- CLOVES syndrome ORPHA:140944
- Hemimegalencephaly ORPHA:99802
- Macrodactyly of fingers, unilateral ORPHA:295239
- Macrodactyly of toes, unilateral ORPHA:295243
- Congenital infiltrating lipomatosis of the face ORPHA:583097
- CLAPO syndrome ORPHA:168984
- CHD8 overgrowth syndrome ORPHA:642675
- PRC-2 complex-related overgrowth spectrum ORPHA:659387
- Syndromic obesity ORPHA:240371
- Smith-Magenis syndrome ORPHA:819
- Fragile X syndrome ORPHA:908
- Prader-Willi syndrome ORPHA:739
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 ORPHA:98754
- Prader-Willi syndrome due to paternal 15q11q13 deletion ORPHA:98793
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 ORPHA:177901
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 ORPHA:177904
- Prader-Willi syndrome due to translocation ORPHA:177907
- Prader-Willi syndrome due to imprinting mutation ORPHA:177910
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- WAGR syndrome ORPHA:893
- Coffin-Lowry syndrome ORPHA:192
- Cohen syndrome ORPHA:193
- Symptomatic form of Coffin-Lowry syndrome in female carriers ORPHA:276630
- Pseudohypoparathyroidism with Albright hereditary osteodystrophy ORPHA:457059
- Pseudohypoparathyroidism type 1A ORPHA:79443
- Pseudohypoparathyroidism type 1C ORPHA:79444
- Pseudopseudohypoparathyroidism ORPHA:79445
- Alström syndrome ORPHA:64
- Borjeson-Forssman-Lehmann syndrome ORPHA:127
- Xq21 microdeletion syndrome ORPHA:1435
- MOMO syndrome ORPHA:2563
- Short stature-brachydactyly-obesity-global developmental delay syndrome ORPHA:464288
- Wilson-Turner syndrome ORPHA:3459
- Hydrocephalus-obesity-hypogonadism syndrome ORPHA:2183
- Bardet-Biedl syndrome ORPHA:110
- Microcephalic osteodysplastic primordial dwarfism type II ORPHA:2637
- Carpenter syndrome ORPHA:65759
- MORM syndrome ORPHA:75858
- MEHMO syndrome ORPHA:85282
- Distal 16p11.2 microdeletion syndrome ORPHA:261222
- Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome ORPHA:352530
- Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome ORPHA:363741
- Intellectual disability-seizures-macrocephaly-obesity syndrome ORPHA:369950
- Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome ORPHA:397973
- Prader-Willi-like syndrome ORPHA:398073
- CPE-related Prader-Willi-like syndrome ORPHA:633028
- 6q16 microdeletion syndrome ORPHA:171829
- SIM1-related Prader-Willi-like syndrome ORPHA:398079
- Schaaf-Yang syndrome ORPHA:398069
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome ORPHA:444077
- Early-onset obesity-hyperphagia-severe developmental delay syndrome ORPHA:99704
- Temple syndrome ORPHA:254516
- Temple syndrome due to maternal uniparental disomy of chromosome 14 ORPHA:96184
- Temple syndrome due to paternal 14q32.2 microdeletion ORPHA:254525
- Temple syndrome due to paternal 14q32.2 hypomethylation ORPHA:254531
- Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome ORPHA:521390
- PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ORPHA:589905
- Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome ORPHA:652487
- Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome ORPHA:293987
- Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome ORPHA:620363
- Clark-Baraitser syndrome ORPHA:600731
- MYT1L-related developmental delay-intellectual disability-obesity syndrome ORPHA:647799
- Rare developmental defect with skin/mucosae involvement ORPHA:139027
- Ehlers-Danlos/osteogenesis imperfecta syndrome ORPHA:230857
- Ataxia-telangiectasia ORPHA:100
- Hereditary hemorrhagic telangiectasia ORPHA:774
- Costello syndrome ORPHA:3071
- Cockayne syndrome ORPHA:191
- COFS syndrome ORPHA:1466
- Cockayne syndrome type 1 ORPHA:90321
- Cockayne syndrome type 2 ORPHA:90322
- Cockayne syndrome type 3 ORPHA:90324
- Waardenburg syndrome ORPHA:3440
- Waardenburg syndrome type 1 ORPHA:894
- Waardenburg syndrome type 2 ORPHA:895
- Waardenburg syndrome type 3 ORPHA:896
- Werner syndrome ORPHA:902
- Bazex-Dupré-Christol syndrome ORPHA:113
- Noonan syndrome with multiple lentigines ORPHA:500
- Acrodermatitis enteropathica ORPHA:37
- Aplasia cutis congenita-intestinal lymphangiectasia syndrome ORPHA:1116
- Aplasia cutis-myopia syndrome ORPHA:1117
- Ascher syndrome ORPHA:1253
- Restrictive dermopathy ORPHA:1662
- Infantile systemic hyalinosis ORPHA:2176
- CHILD syndrome ORPHA:139
- Ichthyosis-oral and digital anomalies syndrome ORPHA:2272
- Ichthyosis follicularis-alopecia-photophobia syndrome ORPHA:2273
- Pachyonychia congenita ORPHA:2309
- Microphthalmia with linear skin defects syndrome ORPHA:2556
- Hutchinson-Gilford progeria syndrome ORPHA:740
- Progeria-short stature-pigmented nevi syndrome ORPHA:2959
- Wiedemann-Rautenstrauch syndrome ORPHA:3455
- Xeroderma pigmentosum ORPHA:910
- Cutis laxa ORPHA:209
- Geroderma osteodysplastica ORPHA:2078
- De Barsy syndrome ORPHA:2962
- SCARF syndrome ORPHA:3134
- Arterial tortuosity syndrome ORPHA:3342
- Occipital horn syndrome ORPHA:198
- Autosomal dominant cutis laxa ORPHA:90348
- Autosomal recessive cutis laxa type 1 ORPHA:90349
- Autosomal recessive cutis laxa type 2 ORPHA:90350
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- Autosomal recessive cutis laxa type 2B ORPHA:357064
- RIN2 syndrome ORPHA:217335
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies ORPHA:221145
- Craniofaciofrontodigital syndrome ORPHA:363705
- Lethal arteriopathy syndrome due to fibulin-4 deficiency ORPHA:314718
- Familial articular hypermobility syndrome ORPHA:2295
- Pseudoxanthoma elasticum ORPHA:758
- Epidermolysis bullosa simplex with muscular dystrophy ORPHA:257
- Junctional epidermolysis bullosa ORPHA:305
- Laryngo-onycho-cutaneous syndrome ORPHA:2407
- Junctional epidermolysis bullosa with pyloric atresia ORPHA:79403
- Severe generalized junctional epidermolysis bullosa ORPHA:79404
- Junctional epidermolysis bullosa inversa ORPHA:79405
- Late-onset junctional epidermolysis bullosa ORPHA:79406
- Localized junctional epidermolysis bullosa ORPHA:251393
- Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome ORPHA:231556
- Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome ORPHA:306504
- Intermediate generalized junctional epidermolysis bullosa ORPHA:79402
- Dystrophic epidermolysis bullosa ORPHA:303
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form ORPHA:79408
- Recessive dystrophic epidermolysis bullosa inversa ORPHA:79409
- Localized dystrophic epidermolysis bullosa ORPHA:595356
- Localized dystrophic epidermolysis bullosa, pretibial form ORPHA:79410
- Localized dystrophic epidermolysis bullosa, acral form ORPHA:158673
- Localized dystrophic epidermolysis bullosa, nails only ORPHA:158676
- Self-improving dystrophic epidermolysis bullosa ORPHA:79411
- Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form ORPHA:89842
- Dystrophic epidermolysis bullosa pruriginosa ORPHA:89843
- Autosomal dominant generalized dystrophic epidermolysis bullosa ORPHA:231568
- Lipoid proteinosis ORPHA:530
- Neuroectodermal melanolysosomal disease ORPHA:33445
- Isolated congenital anonychia ORPHA:79143
- Ectodermal dysplasia syndrome ORPHA:79373
- Arthrogryposis-ectodermal dysplasia syndrome ORPHA:3200
- Ellis Van Creveld syndrome ORPHA:289
- Incontinentia pigmenti ORPHA:464
- Dubowitz syndrome ORPHA:235
- Dyskeratosis congenita ORPHA:1775
- KID syndrome ORPHA:477
- Marshall syndrome ORPHA:560
- Hidrotic ectodermal dysplasia ORPHA:189
- Amelocerebrohypohidrotic syndrome ORPHA:1946
- Acrofacial dysostosis, Weyers type ORPHA:952
- Alopecia-contractures-dwarfism-intellectual disability syndrome ORPHA:1005
- Autosomal dominant palmoplantar keratoderma and congenital alopecia ORPHA:1010
- Amelo-onycho-hypohidrotic syndrome ORPHA:1028
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ORPHA:1071
- Ankyloblepharon filiforme adnatum-cleft palate syndrome ORPHA:1072
- Ankyloblepharon filiforme adnatum-imperforate anus syndrome ORPHA:1074
- AREDYLD syndrome ORPHA:1133
- Cerebellar ataxia-ectodermal dysplasia syndrome ORPHA:1174
- Bartsocas-Papas syndrome ORPHA:1234
- Böök syndrome ORPHA:1262
- Tricho-retino-dento-digital syndrome ORPHA:1264
- Cardiofaciocutaneous syndrome ORPHA:1340
- Autosomal recessive palmoplantar keratoderma and congenital alopecia ORPHA:1366
- Cataract-hypertrichosis-intellectual disability syndrome ORPHA:1375
- Choroidal atrophy-alopecia syndrome ORPHA:1433
- Contractures-ectodermal dysplasia-cleft lip/palate syndrome ORPHA:1484
- Cranioectodermal dysplasia ORPHA:1515
- Dahlberg-Borer-Newcomer syndrome ORPHA:1563
- Hypotrichosis with juvenile macular degeneration ORPHA:1573
- Dermatoosteolysis, Kirghizian type ORPHA:1657
- Dermoodontodysplasia ORPHA:1660
- Barber-Say syndrome ORPHA:1231
- Thumb deformity-alopecia-pigmentation anomaly syndrome ORPHA:2251
- Ectodermal dysplasia-blindness syndrome ORPHA:1806
- Hidrotic ectodermal dysplasia, Christianson-Fourie type ORPHA:1808
- Hidrotic ectodermal dysplasia, Halal type ORPHA:1809
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome ORPHA:1812
- Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome ORPHA:1882
- Ectodermal dysplasia-sensorineural deafness syndrome ORPHA:1883
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome ORPHA:1816
- Ectodermal dysplasia, trichoodontoonychial type ORPHA:1818
- EEM syndrome ORPHA:1897
- Blepharo-cheilo-odontic syndrome ORPHA:1997
- Gingival fibromatosis-hypertrichosis syndrome ORPHA:2026
- Scalp-ear-nipple syndrome ORPHA:2036
- GAPO syndrome ORPHA:2067
- Focal dermal hypoplasia ORPHA:2092
- Gorlin-Chaudhry-Moss syndrome ORPHA:2095
- Hallermann-Streiff syndrome ORPHA:2108
- Hypertrichosis cubiti ORPHA:2220
- Hypertrichosis lanuginosa congenita ORPHA:2222
- Congenital generalized hypertrichosis, Ambras type ORPHA:1023
- X-linked congenital generalized hypertrichosis ORPHA:79495
- Hypodontia-dysplasia of nails syndrome ORPHA:2228
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome ORPHA:2269
- Johanson-Blizzard syndrome ORPHA:2315
- Johnson neuroectodermal syndrome ORPHA:2316
- Pyramidal molars-abnormal upper lip syndrome ORPHA:2561
- Oculodentodigital dysplasia ORPHA:2710
- Oculoosteocutaneous syndrome ORPHA:2713
- Oculotrichodysplasia ORPHA:2718
- Odonto-onycho-dermal dysplasia ORPHA:2721
- Odonto-onycho dysplasia-alopecia syndrome ORPHA:2722
- Odontotrichomelic syndrome ORPHA:2723
- Orofaciodigital syndrome type 1 ORPHA:2750
- Papillon-Lefèvre syndrome ORPHA:678
- Pili torti-onychodysplasia syndrome ORPHA:2890
- Pilodental dysplasia-refractive errors syndrome ORPHA:2892
- Cronkhite-Canada syndrome ORPHA:2930
- Corneodermatoosseous syndrome ORPHA:3194
- Deafness-enamel hypoplasia-nail defects syndrome ORPHA:3220
- Deafness-onychodystrophy syndrome ORPHA:3231
- Conductive deafness-ptosis-skeletal anomalies syndrome ORPHA:3236
- Teebi-Shaltout syndrome ORPHA:3291
- Oculoectodermal syndrome ORPHA:3339
- Trichodental syndrome ORPHA:3351
- Tricho-dento-osseous syndrome ORPHA:3352
- Trichodermodysplasia-dental alterations syndrome ORPHA:3353
- Trichoodontoonychial dysplasia ORPHA:3355
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome ORPHA:3363
- CHIME syndrome ORPHA:3474
- Cartilage-hair hypoplasia ORPHA:175
- Trichothiodystrophy ORPHA:33364
- Schöpf-Schulz-Passarge syndrome ORPHA:50944
- Carvajal syndrome ORPHA:65282
- Odonto-tricho-ungual-digito-palmar syndrome ORPHA:69082
- Ectodermal dysplasia with natal teeth, Turnpenny type ORPHA:69083
- Pure hair and nail ectodermal dysplasia ORPHA:69084
- Naegeli-Franceschetti-Jadassohn syndrome ORPHA:69087
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ORPHA:69088
- Anonychia with flexural pigmentation ORPHA:69125
- Trichodysplasia-amelogenesis imperfecta syndrome ORPHA:79129
- Dermatopathia pigmentosa reticularis ORPHA:86920
- EEC syndrome and related disorders ORPHA:98609
- ADULT syndrome ORPHA:978
- EEC syndrome ORPHA:1896
- Lacrimoauriculodentodigital syndrome ORPHA:2363
- Limb-mammary syndrome ORPHA:69085
- Fried's tooth and nail syndrome ORPHA:99672
- Dermotrichic syndrome ORPHA:99688
- Lelis syndrome ORPHA:140936
- Ectodermal dysplasia-skin fragility syndrome ORPHA:158668
- Hypohidrotic ectodermal dysplasia ORPHA:238468
- X-linked hypohidrotic ectodermal dysplasia ORPHA:181
- Autosomal recessive hypohidrotic ectodermal dysplasia ORPHA:248
- Autosomal dominant hypohidrotic ectodermal dysplasia ORPHA:1810
- Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome ORPHA:247820
- Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome ORPHA:247827
- Curly hair-acral keratoderma-caries syndrome ORPHA:307766
- Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome ORPHA:307936
- Chondroectodermal dysplasia with night blindness ORPHA:319195
- Cleft lip/palate-ectodermal dysplasia syndrome ORPHA:3253
- Trichorhinophalangeal syndrome ORPHA:324764
- Focal facial dermal dysplasia ORPHA:398166
- Focal facial dermal dysplasia type III ORPHA:1807
- Focal facial dermal dysplasia type I ORPHA:79133
- Focal facial dermal dysplasia type II ORPHA:398173
- Focal facial dermal dysplasia type IV ORPHA:398189
- Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome ORPHA:423454
- CHAND syndrome ORPHA:1401
- Hallermann-Streiff-like syndrome ORPHA:2109
- Skin fragility-woolly hair-palmoplantar keratoderma syndrome ORPHA:293165
- Hypotrichosis-intellectual disability, Lopes type ORPHA:2266
- Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome ORPHA:447961
- Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome ORPHA:685067
- Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies ORPHA:589608
- Hypohidrotic ectodermal dysplasia with immunodeficiency ORPHA:98813
- Ehlers-Danlos syndrome ORPHA:98249
- Classical Ehlers-Danlos syndrome ORPHA:287
- Musculocontractural Ehlers-Danlos syndrome ORPHA:2953
- Hypermobile Ehlers-Danlos syndrome ORPHA:285
- Vascular Ehlers-Danlos syndrome ORPHA:286
- Kyphoscoliotic Ehlers-Danlos syndrome ORPHA:536545
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency ORPHA:1900
- Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency ORPHA:300179
- Arthrochalasia Ehlers-Danlos syndrome ORPHA:1899
- Dermatosparaxis Ehlers-Danlos syndrome ORPHA:1901
- Periodontal Ehlers-Danlos syndrome ORPHA:75392
- Spondylodysplastic Ehlers-Danlos syndrome ORPHA:536471
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:536467
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:157965
- X-linked Ehlers-Danlos syndrome ORPHA:75497
- Brittle cornea syndrome ORPHA:90354
- Myopathic Ehlers-Danlos syndrome ORPHA:536516
- Classical-like Ehlers-Danlos syndrome type 1 ORPHA:230839
- Cardiac-valvular Ehlers-Danlos syndrome ORPHA:230851
- Classical-like Ehlers-Danlos syndrome type 2 ORPHA:536532
- Vascular Ehlers-Danlos-polymicrogyria syndrome ORPHA:636941
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Isolated congenital adermatoglyphia ORPHA:289465
- Facial dysmorphism-immunodeficiency-livedo-short stature syndrome ORPHA:352712
- Ichthyosis-short stature-brachydactyly-microspherophakia syndrome ORPHA:363992
- PCNA-related progressive neurodegenerative photosensitivity syndrome ORPHA:438134
- Xeroderma pigmentosum variant ORPHA:90342
- Rare developmental defect with connective tissue involvement ORPHA:139030
- Ehlers-Danlos/osteogenesis imperfecta syndrome ORPHA:230857
- Marfan syndrome ORPHA:558
- Desbuquois syndrome ORPHA:1425
- Lethal Larsen-like syndrome ORPHA:2371
- Cutis laxa ORPHA:209
- Geroderma osteodysplastica ORPHA:2078
- De Barsy syndrome ORPHA:2962
- SCARF syndrome ORPHA:3134
- Arterial tortuosity syndrome ORPHA:3342
- Occipital horn syndrome ORPHA:198
- Autosomal dominant cutis laxa ORPHA:90348
- Autosomal recessive cutis laxa type 1 ORPHA:90349
- Autosomal recessive cutis laxa type 2 ORPHA:90350
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- Autosomal recessive cutis laxa type 2B ORPHA:357064
- RIN2 syndrome ORPHA:217335
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies ORPHA:221145
- Craniofaciofrontodigital syndrome ORPHA:363705
- Lethal arteriopathy syndrome due to fibulin-4 deficiency ORPHA:314718
- Larsen syndrome ORPHA:503
- Pseudoxanthoma elasticum ORPHA:758
- Grange syndrome ORPHA:79094
- Pseudodiastrophic dysplasia ORPHA:85174
- Ehlers-Danlos syndrome ORPHA:98249
- Classical Ehlers-Danlos syndrome ORPHA:287
- Musculocontractural Ehlers-Danlos syndrome ORPHA:2953
- Hypermobile Ehlers-Danlos syndrome ORPHA:285
- Vascular Ehlers-Danlos syndrome ORPHA:286
- Kyphoscoliotic Ehlers-Danlos syndrome ORPHA:536545
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency ORPHA:1900
- Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency ORPHA:300179
- Arthrochalasia Ehlers-Danlos syndrome ORPHA:1899
- Dermatosparaxis Ehlers-Danlos syndrome ORPHA:1901
- Periodontal Ehlers-Danlos syndrome ORPHA:75392
- Spondylodysplastic Ehlers-Danlos syndrome ORPHA:536471
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:536467
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:157965
- X-linked Ehlers-Danlos syndrome ORPHA:75497
- Brittle cornea syndrome ORPHA:90354
- Myopathic Ehlers-Danlos syndrome ORPHA:536516
- Classical-like Ehlers-Danlos syndrome type 1 ORPHA:230839
- Cardiac-valvular Ehlers-Danlos syndrome ORPHA:230851
- Classical-like Ehlers-Danlos syndrome type 2 ORPHA:536532
- Vascular Ehlers-Danlos-polymicrogyria syndrome ORPHA:636941
- Cutis laxa-Marfanoid syndrome ORPHA:171719
- Blindness-scoliosis-arachnodactyly syndrome ORPHA:171844
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome ORPHA:228410
- 6q25.1 microdeletion syndrome ORPHA:664404
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation ORPHA:664401
- Larsen-like syndrome, B3GAT3 type ORPHA:284139
- Connective tissue disorder due to lysyl hydroxylase-3 deficiency ORPHA:300284
- Marfanoid habitus-inguinal hernia-advanced bone age syndrome ORPHA:314041
- Severe myopia-generalized joint laxity-short stature syndrome ORPHA:527450
- Familial articular hypermobility syndrome ORPHA:2295
- Progeroid syndrome ORPHA:139033
- Donohue syndrome ORPHA:508
- Cockayne syndrome ORPHA:191
- COFS syndrome ORPHA:1466
- Cockayne syndrome type 1 ORPHA:90321
- Cockayne syndrome type 2 ORPHA:90322
- Cockayne syndrome type 3 ORPHA:90324
- Werner syndrome ORPHA:902
- Congenital generalized lipodystrophy ORPHA:528
- Familial partial lipodystrophy, Dunnigan type ORPHA:2348
- Mandibuloacral dysplasia ORPHA:2457
- Mandibuloacral dysplasia with type A lipodystrophy ORPHA:90153
- Mandibuloacral dysplasia with type B lipodystrophy ORPHA:90154
- Hutchinson-Gilford progeria syndrome ORPHA:740
- Progeria-short stature-pigmented nevi syndrome ORPHA:2959
- Pseudoprogeria syndrome ORPHA:2985
- Rothmund-Thomson syndrome ORPHA:2909
- SHORT syndrome ORPHA:3163
- Wiedemann-Rautenstrauch syndrome ORPHA:3455
- Xeroderma pigmentosum ORPHA:910
- Lipodystrophy-intellectual disability-deafness syndrome ORPHA:50811
- Atypical Werner syndrome ORPHA:79474
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Ogden syndrome ORPHA:276432
- Nestor-Guillermo progeria syndrome ORPHA:280576
- Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome ORPHA:363649
- Acroosteolysis-keloid-like lesions-premature aging syndrome ORPHA:363665
- Progeroid features-hepatocellular carcinoma predisposition syndrome ORPHA:435953
- PCNA-related progressive neurodegenerative photosensitivity syndrome ORPHA:438134
- Wormian bones-micrognathia-abnormal dentition-progeroid syndrome ORPHA:659873
- Mandibuloacral dysplasia associated to MTX2 ORPHA:647667
- Xeroderma pigmentosum variant ORPHA:90342
- Branchial arch or oral-acral syndrome ORPHA:139036
- Oculo-auriculo-vertebral spectrum ORPHA:141132
- Otopalatodigital syndrome type 2 ORPHA:90652
- 22q11.2 deletion syndrome ORPHA:567
- BOR syndrome ORPHA:107
- Treacher-Collins syndrome ORPHA:861
- Nager syndrome ORPHA:245
- Charlie M syndrome ORPHA:1406
- Postaxial acrofacial dysostosis ORPHA:246
- Moebius syndrome ORPHA:570
- Acrofacial dysostosis, Weyers type ORPHA:952
- Hypoglossia-hypodactyly syndrome ORPHA:989
- X-linked mandibulofacial dysostosis ORPHA:1131
- Lambert syndrome ORPHA:1296
- Acrofacial dysostosis, Catania type ORPHA:1786
- Acrofacial dysostosis, Rodríguez type ORPHA:1788
- Frontofacionasal dysplasia ORPHA:1791
- Splenogonadal fusion-limb defects-micrognathia syndrome ORPHA:2063
- Hypertelorism-microtia-facial clefting syndrome ORPHA:2213
- Patterson-Stevenson-Fontaine syndrome ORPHA:2439
- Oculoauriculovertebral spectrum with radial defects ORPHA:2549
- Ear-patella-short stature syndrome ORPHA:2554
- Otofaciocervical syndrome ORPHA:2792
- Wildervanck syndrome ORPHA:3456
- Otopalatodigital syndrome type 1 ORPHA:90650
- Acrofacial dysostosis, Palagonia type ORPHA:1787
- Acrofacial dysostosis, Kennedy-Teebi type ORPHA:64542
- Mandibulofacial dysostosis-microcephaly syndrome ORPHA:79113
- Auriculocondylar syndrome ORPHA:137888
- Orofaciodigital syndrome ORPHA:140997
- Orofaciodigital syndrome type 1 ORPHA:2750
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Orofaciodigital syndrome type 8 ORPHA:2755
- Orofaciodigital syndrome type 5 ORPHA:2919
- Orofaciodigital syndrome type 11 ORPHA:141000
- Orofaciodigital syndrome type 9 ORPHA:141007
- Orofaciodigital syndrome type 14 ORPHA:434179
- Oral-facial-digital syndrome with short stature and brachymesophalangy ORPHA:508501
- Epibulbar lipodermoid-preauricular appendage-polythelia syndrome ORPHA:231742
- Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome ORPHA:306542
- Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome ORPHA:357158
- Malformation syndrome with odontal and/or periodontal component ORPHA:139042
- Oculocerebral hypopigmentation syndrome, Preus type ORPHA:2720
- SATB2-associated syndrome ORPHA:576278
- SATB2-associated syndrome due to a chromosomal rearrangement ORPHA:251028
- SATB2-associated syndrome due to a pathogenic variant ORPHA:576283
- Nance-Horan syndrome ORPHA:627
- Amelocerebrohypohidrotic syndrome ORPHA:1946
- ADULT syndrome ORPHA:978
- Enamel-renal syndrome ORPHA:1031
- Steroid dehydrogenase deficiency-dental anomalies syndrome ORPHA:3196
- Cleidocranial dysplasia ORPHA:1452
- Otopalatodigital syndrome type 1 ORPHA:90650
- Otopalatodigital syndrome type 2 ORPHA:90652
- Dermoodontodysplasia ORPHA:1660
- Odontomicronychial dysplasia ORPHA:1811
- Jalili syndrome ORPHA:1873
- Ectodermal dysplasia, trichoodontoonychial type ORPHA:1818
- Blepharo-cheilo-odontic syndrome ORPHA:1997
- Cleft palate-stapes fixation-oligodontia syndrome ORPHA:2010
- Gingival fibromatosis-facial dysmorphism syndrome ORPHA:2025
- Gingival fibromatosis-hypertrichosis syndrome ORPHA:2026
- Gingival fibromatosis-progressive deafness syndrome ORPHA:2027
- Juvenile hyaline fibromatosis ORPHA:2028
- GAPO syndrome ORPHA:2067
- Hypodontia-dysplasia of nails syndrome ORPHA:2228
- KBG syndrome ORPHA:2332
- Haim-Munk syndrome ORPHA:2342
- Lacrimoauriculodentodigital syndrome ORPHA:2363
- Pyramidal molars-abnormal upper lip syndrome ORPHA:2561
- Oculodental syndrome, Rutherfurd type ORPHA:2709
- Oculodentodigital dysplasia ORPHA:2710
- Oculofaciocardiodental syndrome ORPHA:2712
- Oculocerebral hypopigmentation syndrome, Cross type ORPHA:2719
- Odonto-onycho-dermal dysplasia ORPHA:2721
- Odonto-onycho dysplasia-alopecia syndrome ORPHA:2722
- Odontotrichomelic syndrome ORPHA:2723
- Odontomatosis-aortae esophagus stenosis syndrome ORPHA:2724
- Otodental syndrome ORPHA:2791
- Papillon-Lefèvre syndrome ORPHA:678
- Pilodental dysplasia-refractive errors syndrome ORPHA:2892
- Brachyolmia-amelogenesis imperfecta syndrome ORPHA:2899
- Postaxial polydactyly-dental and vertebral anomalies syndrome ORPHA:2916
- Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome ORPHA:2972
- Ramon syndrome ORPHA:3019
- Steatocystoma multiplex-natal teeth syndrome ORPHA:3184
- Deafness-enamel hypoplasia-nail defects syndrome ORPHA:3220
- Deafness-oligodontia syndrome ORPHA:3230
- Trichodental syndrome ORPHA:3351
- Tricho-dento-osseous syndrome ORPHA:3352
- Trichodermodysplasia-dental alterations syndrome ORPHA:3353
- Trichoodontoonychial dysplasia ORPHA:3355
- Anterior maxillary protrusion-strabismus-intellectual disability syndrome ORPHA:562559
- Zimmermann-Laband syndrome ORPHA:3473
- Schöpf-Schulz-Passarge syndrome ORPHA:50944
- Odonto-tricho-ungual-digito-palmar syndrome ORPHA:69082
- Ectodermal dysplasia with natal teeth, Turnpenny type ORPHA:69083
- Trichodysplasia-amelogenesis imperfecta syndrome ORPHA:79129
- Oculootodental syndrome ORPHA:99806
- Malformative syndrome with dentinogenesis imperfecta ORPHA:180766
- Schimke immuno-osseous dysplasia ORPHA:1830
- Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome ORPHA:71267
- Odontochondrodysplasia ORPHA:166272
- Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia ORPHA:166277
- Craniosynostosis-dental anomalies ORPHA:284149
- AXIN2-related attenuated familial adenomatous polyposis ORPHA:401911
- Curly hair-acral keratoderma-caries syndrome ORPHA:307766
- Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome ORPHA:307936
- Temtamy preaxial brachydactyly syndrome ORPHA:363417
- Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome ORPHA:314555
- Wormian bones-micrognathia-abnormal dentition-progeroid syndrome ORPHA:659873
- Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome ORPHA:664438
- Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome ORPHA:684232
- Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies ORPHA:589608
- Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome ORPHA:598603
- Rare head and neck malformation ORPHA:155832
- Cleft lip with or without cleft palate ORPHA:1991
- Median nodule of the upper lip ORPHA:2699
- Cleft palate ORPHA:2014
- Bifid uvula ORPHA:99771
- Cleft velum ORPHA:99772
- Cleft hard palate ORPHA:101023
- Submucosal cleft palate ORPHA:155878
- Soft and hard cleft palate ORPHA:664372
- Congenital unilateral hypoplasia of depressor anguli oris ORPHA:1166
- Rare otorhinolaryngological malformation ORPHA:96333
- Cysts and fistulae of the face and oral cavity ORPHA:155835
- Familial thyroglossal duct cyst ORPHA:93953
- First branchial cleft anomaly ORPHA:141013
- Second branchial cleft anomaly ORPHA:141022
- Third branchial cleft anomaly ORPHA:141030
- Fourth branchial cleft anomaly ORPHA:141037
- Cervical dermoid cyst ORPHA:141046
- Facial dermoid cyst ORPHA:141051
- Commissural lip fistula ORPHA:141061
- Isolated lower lip fistula ORPHA:141064
- Cervicofacial fibrochondroma ORPHA:141067
- Isolated digestive duplication cyst of the tongue ORPHA:141071
- Nasal dermoid cyst ORPHA:141103
- Nasal dorsum fistula ORPHA:141219
- Pinnae fistula or cyst ORPHA:155838
- Pinnae and external auditory canal anomaly ORPHA:156243
- Microtia ORPHA:83463
- Anotia ORPHA:93976
- External auditory canal aplasia/hypoplasia ORPHA:141074
- External auditory canal atresia-vertical talus-hypertelorism syndrome ORPHA:3023
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome ORPHA:397623
- X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome ORPHA:500188
- Nose and cavum anomaly ORPHA:156246
- Lymphedema-posterior choanal atresia syndrome ORPHA:99141
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome ORPHA:2250
- Burn-McKeown syndrome ORPHA:1200
- Blepharonasofacial malformation syndrome ORPHA:1252
- Lacrimoauriculodentodigital syndrome ORPHA:2363
- Bifid nose ORPHA:2695
- Radial ray hypoplasia-choanal atresia syndrome ORPHA:3026
- Isolated arrhinia ORPHA:1134
- Intractable diarrhea-choanal atresia-eye anomalies syndrome ORPHA:137622
- Choanal atresia ORPHA:137914
- Nasolacrimal duct cyst ORPHA:141083
- Polyrrhinia ORPHA:141091
- Supernumerary nostril ORPHA:141096
- Proboscis lateralis ORPHA:141099
- Nasal glial heterotopia ORPHA:141112
- Nasal encephalocele ORPHA:141118
- Craniorhiny ORPHA:157832
- Isolated congenital nasal pyriform aperture stenosis ORPHA:162516
- BNAR syndrome ORPHA:217266
- Supratip dysplasia ORPHA:466695
- Familial congenital nasolacrimal duct obstruction ORPHA:451612
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome ORPHA:589856
- Larynx anomaly ORPHA:156249
- Congenital laryngomalacia ORPHA:2373
- Isolated congenital laryngeal web ORPHA:2374
- Larynx atresia ORPHA:1202
- Laryngocele ORPHA:2372
- Laryngotracheoesophageal cleft ORPHA:2004
- Laryngotracheoesophageal cleft type 1 ORPHA:93938
- Laryngotracheoesophageal cleft type 2 ORPHA:93939
- Laryngotracheoesophageal cleft type 3 ORPHA:93940
- Laryngotracheoesophageal cleft type 4 ORPHA:93941
- Laryngotracheoesophageal cleft type 0 ORPHA:280205
- Congenital velopharyngeal incompetence ORPHA:2291
- Laryngeal abductor paralysis ORPHA:2808
- Primary laryngeal lymphangioma ORPHA:137926
- Congenital laryngeal palsy ORPHA:137932
- Airway infantile hemangioma ORPHA:137935
- Congenital subglottic stenosis ORPHA:141121
- Congenital laryngeal cyst ORPHA:141124
- Tracheal anomaly ORPHA:156252
- Tracheal agenesis ORPHA:3346
- Congenital tracheomalacia ORPHA:95430
- Congenital tracheal stenosis ORPHA:141127
- Middle and/or inner ear anomaly ORPHA:164004
- Cochlear nerve deficiency ORPHA:502318
- Isolated congenital cholesteatoma of the middle ear ORPHA:686556
- Cochleovestibular malformation ORPHA:502305
- Isolated congenital auditory ossicle malformation ORPHA:162526
- Otomandibular dysplasia ORPHA:155896
- Auriculocondylar syndrome ORPHA:137888
- Oculo-auriculo-vertebral spectrum ORPHA:141132
- Mandibulofacial dysostosis ORPHA:155899
- Treacher-Collins syndrome ORPHA:861
- Acrodysostosis ORPHA:950
- Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome ORPHA:357158
- Mandibulofacial dysostosis with alopecia ORPHA:443995
- Otomandibular dysplasia associated with monogenic syndromes ORPHA:156202
- Facial cleft ORPHA:141229
- Median facial cleft ORPHA:141234
- Median cleft lip/mandible ORPHA:2006
- Frontofacionasal dysplasia ORPHA:1791
- Bifid nose ORPHA:2695
- Median cleft of the upper lip and maxilla ORPHA:141239
- Midline cervical cleft ORPHA:141288
- Frontorhiny ORPHA:391474
- Familial median cleft of the upper and lower lips ORPHA:401942
- Oblique facial cleft ORPHA:141253
- Tessier number 4 facial cleft ORPHA:141258
- Tessier number 5 facial cleft ORPHA:141261
- Tessier number 6 facial cleft ORPHA:141265
- Coloboma of superior eyelid ORPHA:155884
- Coloboma of inferior eyelid ORPHA:155889
- Lateral facial cleft ORPHA:141269
- Paramedian facial cleft ORPHA:155867
- Macroglossia ORPHA:156207
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- Congenital macroglossia ORPHA:2430
- Simpson-Golabi-Behmel syndrome ORPHA:373
- Isolated hemihyperplasia ORPHA:2128
- Hemifacial hyperplasia ORPHA:141145
- Hemifacial myohyperplasia ORPHA:141148
- Hypoglossia/aglossia ORPHA:156212
- Isolated congenital hypoglossia/aglossia ORPHA:141152
- Oromandibular-limb anomalies syndrome ORPHA:156215
- Oromandibular-limb hypogenesis syndrome ORPHA:2749
- Charlie M syndrome ORPHA:1406
- Hypoglossia-hypodactyly syndrome ORPHA:989
- Glossopalatine ankylosis ORPHA:141163
- Orofaciodigital syndrome ORPHA:140997
- Orofaciodigital syndrome type 1 ORPHA:2750
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Orofaciodigital syndrome type 8 ORPHA:2755
- Orofaciodigital syndrome type 5 ORPHA:2919
- Orofaciodigital syndrome type 11 ORPHA:141000
- Orofaciodigital syndrome type 9 ORPHA:141007
- Orofaciodigital syndrome type 14 ORPHA:434179
- Oral-facial-digital syndrome with short stature and brachymesophalangy ORPHA:508501
- Paralytic facial malformation ORPHA:156224
- Moebius syndrome ORPHA:570
- Isolated hereditary congenital facial paralysis ORPHA:306527
- Congenital hereditary facial paralysis-variable hearing loss syndrome ORPHA:306530
- Syndrome or malformation associated with head and neck malformations ORPHA:156237
- CHARGE syndrome ORPHA:138
- BOR syndrome ORPHA:107
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- Monosomy 18q syndrome ORPHA:1600
- Postaxial acrofacial dysostosis ORPHA:246
- Isolated Pierre Robin sequence ORPHA:718
- Proteus syndrome ORPHA:744
- Sturge-Weber syndrome ORPHA:3205
- Simpson-Golabi-Behmel syndrome ORPHA:373
- Van der Woude syndrome ORPHA:888
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ORPHA:1071
- Ankyloblepharon filiforme adnatum-cleft palate syndrome ORPHA:1072
- Ankyloblepharon filiforme adnatum-imperforate anus syndrome ORPHA:1074
- Arthrogryposis multiplex congenita-whistling face syndrome ORPHA:1150
- Maxillonasal dysplasia ORPHA:1248
- CHAND syndrome ORPHA:1401
- EEC syndrome ORPHA:1896
- Multiple pterygium-malignant hyperthermia syndrome ORPHA:2215
- Marden-Walker syndrome ORPHA:2461
- Adducted thumbs-arthrogryposis syndrome, Christian type ORPHA:2952
- Van den Ende-Gupta syndrome ORPHA:2460
- Otopalatodigital syndrome type 1 ORPHA:90650
- Isolated ankyloblepharon filiforme adnatum ORPHA:91397
- Rare disease with Pierre Robin syndrome ORPHA:138044
- TARP syndrome ORPHA:2886
- Pierre Robin syndrome associated with collagen disease ORPHA:138041
- Stickler syndrome ORPHA:828
- Stickler syndrome type 1 ORPHA:90653
- Stickler syndrome type 2 ORPHA:90654
- Autosomal recessive Stickler syndrome ORPHA:250984
- Kniest dysplasia ORPHA:485
- Autosomal dominant otospondylomegaepiphyseal dysplasia ORPHA:166100
- Pierre Robin syndrome associated with a chromosomal anomaly ORPHA:138047
- 22q11.2 deletion syndrome ORPHA:567
- Contractures-developmental delay-Pierre Robin syndrome ORPHA:436003
- 21q22.11q22.12 microdeletion syndrome ORPHA:261323
- Pierre Robin syndrome associated with branchial archs anomalies ORPHA:138050
- Pierre Robin syndrome associated with bone disease ORPHA:138055
- Apert syndrome ORPHA:87
- Atelosteogenesis type I ORPHA:1190
- Atelosteogenesis type II ORPHA:56304
- Atelosteogenesis type III ORPHA:56305
- Cornelia de Lange syndrome ORPHA:199
- Teratogenic Pierre Robin syndrome ORPHA:138059
- Toluene embryopathy ORPHA:1920
- Methimazole embryofetopathy ORPHA:1923
- Diabetic embryopathy ORPHA:1926
- Maternal phenylketonuria syndrome ORPHA:2209
- Maternal hyperthermia-induced birth defects ORPHA:2216
- Isotretinoin syndrome ORPHA:2305
- Fetal alcohol syndrome ORPHA:1915
- Fetal parvovirus syndrome ORPHA:295
- Fetal valproate spectrum disorder ORPHA:1906
- Aminopterin/methotrexate embryofetopathy ORPHA:1908
- Indomethacin embryofetopathy ORPHA:1909
- Fetal iodine syndrome ORPHA:1910
- Cocaine embryofetopathy ORPHA:1911
- Fetal minoxidil syndrome ORPHA:1918
- Fetal hydantoin syndrome ORPHA:1912
- Fetal trimethadione syndrome ORPHA:1913
- Vitamin K antagonist embryofetopathy ORPHA:1914
- Fetal methylmercury syndrome ORPHA:1917
- Phenobarbital embryopathy ORPHA:1919
- Propylthiouracil embryofetopathy ORPHA:485358
- Intellectual disability-brachydactyly-Pierre Robin syndrome ORPHA:364577
- Orofacial clefting syndrome ORPHA:139039
- Meckel syndrome ORPHA:564
- Diamond-Blackfan anemia ORPHA:124
- Roberts syndrome ORPHA:3103
- Uveal coloboma-cleft lip and palate-intellectual disability ORPHA:1473
- Carey-Fineman-Ziter syndrome ORPHA:1358
- Aase-Smith syndrome ORPHA:916
- Ablepharon macrostomia syndrome ORPHA:920
- Abruzzo-Erickson syndrome ORPHA:921
- Bamforth-Lazarus syndrome ORPHA:1226
- Bencze syndrome ORPHA:1241
- Branchio-oculo-facial syndrome ORPHA:1297
- Catel-Manzke syndrome ORPHA:1388
- Contractures-ectodermal dysplasia-cleft lip/palate syndrome ORPHA:1484
- Crane-Heise syndrome ORPHA:1512
- Femoral-facial syndrome ORPHA:1988
- Pai syndrome ORPHA:1993
- Cleft lip-retinopathy syndrome ORPHA:1995
- Blepharo-cheilo-odontic syndrome ORPHA:1997
- Cleft lip/palate-intestinal malrotation-cardiopathy syndrome ORPHA:2001
- Cleft lip/palate-deafness-sacral lipoma syndrome ORPHA:2003
- Acrocardiofacial syndrome ORPHA:2008
- Cleft palate-large ears-small head syndrome ORPHA:2013
- Cleft palate-lateral synechia syndrome ORPHA:2016
- Genitopalatocardiac syndrome ORPHA:2075
- Gordon syndrome ORPHA:376
- Hartsfield syndrome ORPHA:2117
- Holzgreve syndrome ORPHA:2167
- Hydrolethalus ORPHA:2189
- Hypertelorism-microtia-facial clefting syndrome ORPHA:2213
- Juberg-Hayward syndrome ORPHA:2319
- Kapur-Toriello syndrome ORPHA:2328
- Macrosomia-microphthalmia-cleft palate syndrome ORPHA:2432
- Dysraphism-cleft lip/palate-limb reduction defects syndrome ORPHA:2476
- Microbrachycephaly-ptosis-cleft lip syndrome ORPHA:2511
- Microcephaly-cleft palate-abnormal retinal pigmentation syndrome ORPHA:2521
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome ORPHA:2631
- Oculo-palato-cerebral syndrome ORPHA:2714
- Odontotrichomelic syndrome ORPHA:2723
- Lethal omphalocele-cleft palate syndrome ORPHA:2736
- W syndrome ORPHA:2804
- PARC syndrome ORPHA:2825
- Fuhrmann syndrome ORPHA:2854
- Pierre Robin syndrome-faciodigital anomaly syndrome ORPHA:2888
- RAPADILINO syndrome ORPHA:3021
- Richieri Costa-Pereira syndrome ORPHA:3102
- Robin sequence-oligodactyly syndrome ORPHA:3104
- Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome ORPHA:3201
- Cleft lip/palate-ectodermal dysplasia syndrome ORPHA:3253
- Thomas syndrome ORPHA:3316
- Tibial aplasia-ectrodactyly syndrome ORPHA:3329
- Toriello-Carey syndrome ORPHA:3338
- Velo-facial-skeletal syndrome ORPHA:3424
- Verloove Vanhorick-Brubakk syndrome ORPHA:3429
- Weaver-Williams syndrome ORPHA:3448
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome ORPHA:477993
- Hardikar syndrome ORPHA:1415
- Cleft palate-short stature-vertebral anomalies syndrome ORPHA:2015
- Dysmorphism-cleft palate-loose skin syndrome ORPHA:1779
- Syngnathia-cleft palate syndrome ORPHA:3263
- Larsen syndrome ORPHA:503
- Goldberg-Shprintzen megacolon syndrome ORPHA:66629
- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome ORPHA:77300
- Mandibulofacial dysostosis-microcephaly syndrome ORPHA:79113
- Macular coloboma-cleft palate-hallux valgus syndrome ORPHA:91494
- Bilateral microtia-deafness-cleft palate syndrome ORPHA:140963
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome ORPHA:163649
- Autosomal dominant otospondylomegaepiphyseal dysplasia ORPHA:166100
- Native American myopathy ORPHA:168572
- Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome ORPHA:306542
- X-linked cleft palate and ankyloglossia ORPHA:324601
- Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome ORPHA:508476
- Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome ORPHA:660021
- Oculomaxillofacial dysostosis ORPHA:1794
- Orofaciodigital syndrome ORPHA:140997
- Orofaciodigital syndrome type 1 ORPHA:2750
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Orofaciodigital syndrome type 8 ORPHA:2755
- Orofaciodigital syndrome type 5 ORPHA:2919
- Orofaciodigital syndrome type 11 ORPHA:141000
- Orofaciodigital syndrome type 9 ORPHA:141007
- Orofaciodigital syndrome type 14 ORPHA:434179
- Oral-facial-digital syndrome with short stature and brachymesophalangy ORPHA:508501
- Isolated congenital syngnathia ORPHA:141214
- Hemihyperplasia-multiple lipomatosis syndrome ORPHA:276280
- Popliteal pterygium syndrome ORPHA:294963
- Otopalatodigital syndrome type 2 ORPHA:90652
- SATB2-associated syndrome ORPHA:576278
- Rare chromosomal anomaly ORPHA:68335
- Mosaic variegated aneuploidy syndrome ORPHA:1052
- Polyploidy syndrome ORPHA:96321
- Autosomal anomaly syndrome ORPHA:98127
- Ring chromosome syndrome ORPHA:363203
- Ring chromosome 3 syndrome ORPHA:96172
- Ring chromosome 9 syndrome ORPHA:96173
- Ring chromosome 11 syndrome ORPHA:96175
- Ring chromosome 13 syndrome ORPHA:96176
- Ring chromosome 15 syndrome ORPHA:96177
- Ring chromosome 16 syndrome ORPHA:96178
- Ring chromosome 5 syndrome ORPHA:251043
- Ring chromosome 18 syndrome ORPHA:1442
- Ring chromosome 22 syndrome ORPHA:1446
- Ring chromosome 1 syndrome ORPHA:1437
- Ring chromosome 10 syndrome ORPHA:1438
- Ring chromosome 12 syndrome ORPHA:1439
- Ring chromosome 20 syndrome ORPHA:1444
- Ring chromosome 4 syndrome ORPHA:1447
- Ring chromosome 6 syndrome ORPHA:1448
- Ring chromosome 8 syndrome ORPHA:1450
- Ring chromosome 21 syndrome ORPHA:1445
- Ring chromosome 14 syndrome ORPHA:1440
- Ring chromosome 19 syndrome ORPHA:1443
- Ring chromosome 7 syndrome ORPHA:1449
- Ring chromosome 17 syndrome ORPHA:1441
- Ring chromosome 2 syndrome ORPHA:96171
- Autosomal trisomy syndrome ORPHA:98130
- Total autosomal trisomy syndrome ORPHA:98131
- Trisomy 13 syndrome ORPHA:3378
- Trisomy 18 syndrome ORPHA:3380
- Mosaic trisomy 14 syndrome ORPHA:1703
- Mosaic trisomy 1 syndrome ORPHA:1692
- Mosaic trisomy 12 syndrome ORPHA:1698
- Mosaic trisomy 15 syndrome ORPHA:1706
- Mosaic trisomy 16 syndrome ORPHA:1708
- Mosaic trisomy 17 syndrome ORPHA:1711
- Mosaic trisomy 2 syndrome ORPHA:1723
- Mosaic trisomy 20 syndrome ORPHA:1724
- Mosaic trisomy 7 syndrome ORPHA:1747
- Mosaic trisomy 4 syndrome ORPHA:96059
- Mosaic trisomy 5 syndrome ORPHA:96060
- Mosaic trisomy 8 syndrome ORPHA:96061
- Mosaic trisomy 10 syndrome ORPHA:96063
- Mosaic trisomy 22 syndrome ORPHA:96068
- Mosaic trisomy 9 syndrome ORPHA:99776
- Mosaic trisomy 3 syndrome ORPHA:100071
- Down syndrome ORPHA:870
- Partial autosomal duplication/triplication syndrome ORPHA:98132
- Tetrasomy 21 syndrome ORPHA:96055
- Partial duplication of chromosome 1 syndrome ORPHA:262191
- Partial duplication of the long arm of chromosome 1 syndrome ORPHA:262833
- Partial duplication of the short arm of chromosome 1 syndrome ORPHA:264431
- Partial duplication of chromosome 2 syndrome ORPHA:262196
- Partial duplication of the short arm of chromosome 2 syndrome ORPHA:262698
- Partial duplication of the long arm of chromosome 2 syndrome ORPHA:262842
- Partial duplication of chromosome 3 syndrome ORPHA:262201
- Partial duplication of the short arm of chromosome 3 syndrome ORPHA:262707
- Partial duplication of the long arm of chromosome 3 syndrome ORPHA:262851
- Partial duplication of chromosome 4 syndrome ORPHA:262206
- Partial duplication of the short arm of chromosome 4 syndrome ORPHA:262716
- Partial duplication of the long arm of chromosome 4 syndrome ORPHA:262860
- Partial duplication/triplication of chromosome 5 syndrome ORPHA:262211
- Partial duplication/triplication of the short arm of chromosome 5 syndrome ORPHA:262725
- Trisomy 5p syndrome ORPHA:1742
- Tetrasomy 5p syndrome ORPHA:3309
- 5p13 microduplication syndrome ORPHA:329802
- Partial duplication of the long arm of chromosome 5 syndrome ORPHA:262869
- Partial duplication of chromosome 6 syndrome ORPHA:262628
- Partial duplication of the short arm of chromosome 6 syndrome ORPHA:262740
- Partial duplication of the long arm of chromosome 6 syndrome ORPHA:262878
- Partial duplication of chromosome 7 syndrome ORPHA:262633
- Partial duplication of the short arm of chromosome 7 syndrome ORPHA:262749
- Distal duplication 7p syndrome ORPHA:96074
- Silver-Russell syndrome due to 7p11.2p13 microduplication ORPHA:231137
- 7p22.1 microduplication syndrome ORPHA:314034
- Partial duplication of the long arm of chromosome 7 syndrome ORPHA:262887
- Partial duplication of chromosome 8 syndrome ORPHA:262638
- Partial duplication of the short arm of chromosome 8 syndrome ORPHA:262758
- Partial duplication of the long arm of chromosome 8 syndrome ORPHA:262896
- Partial duplication/triplication of chromosome 9 syndrome ORPHA:262643
- Partial duplication/triplication of the short arm of chromosome 9 syndrome ORPHA:262767
- Partial duplication of the long arm of chromosome 9 syndrome ORPHA:262905
- Partial duplication of chromosome 10 syndrome ORPHA:262648
- Partial duplication of the short arm of chromosome 10 syndrome ORPHA:262776
- Partial duplication of the long arm of chromosome 10 syndrome ORPHA:262914
- Partial duplication of chromosome 11 syndrome ORPHA:262653
- Partial duplication of the short arm of chromosome 11 syndrome ORPHA:262785
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Silver-Russell syndrome due to 11p15 microduplication ORPHA:231144
- 11p15.4 microduplication syndrome ORPHA:300305
- Partial duplication of the long arm of chromosome 11 syndrome ORPHA:262923
- Partial duplication/triplication of the short arm of chromosome 12 syndrome ORPHA:262658
- Partial duplication of chromosome 16 syndrome ORPHA:262672
- Partial duplication of the short arm of chromosome 16 syndrome ORPHA:262794
- 16p13.3 microduplication syndrome ORPHA:96078
- 16p11.2p12.2 microduplication syndrome ORPHA:261204
- 16p13.11 microduplication syndrome ORPHA:261243
- Proximal 16p11.2 microduplication syndrome ORPHA:370079
- 16p12.1p12.3 triplication syndrome ORPHA:485405
- Partial duplication of the long arm of chromosome 16 syndrome ORPHA:262959
- Partial duplication of chromosome 17 syndrome ORPHA:262677
- Partial duplication of the short arm of chromosome 17 syndrome ORPHA:262803
- 17p11.2 microduplication syndrome ORPHA:1713
- Charcot-Marie-Tooth disease type 1A ORPHA:101081
- 17p13.3 microduplication syndrome ORPHA:217385
- Trisomy 17p syndrome ORPHA:261290
- Partial duplication of the long arm of chromosome 17 syndrome ORPHA:262968
- Distal duplication 17q syndrome ORPHA:3379
- 17q11.2 microduplication syndrome ORPHA:139474
- 17q21.31 microduplication syndrome ORPHA:217340
- Familial clubfoot due to 17q23.1q23.2 microduplication ORPHA:238578
- 17q12 microduplication syndrome ORPHA:261272
- PMP22-RAI1 contiguous gene duplication syndrome ORPHA:477817
- Partial duplication/triplication of chromosome 18 syndrome ORPHA:262682
- Partial duplication/triplication of the short arm of chromosome 18 syndrome ORPHA:262812
- Partial duplication of the long arm of chromosome 18 syndrome ORPHA:262977
- Partial duplication of chromosome 19 syndrome ORPHA:262687
- Partial duplication of the long arm of chromosome 19 syndrome ORPHA:262986
- Partial duplication of the short arm of chromosome 19 syndrome ORPHA:447985
- Partial duplication of chromosome 20 syndrome ORPHA:262692
- Trisomy 20p syndrome ORPHA:261318
- Partial duplication of the long arm of chromosome 20 syndrome ORPHA:262995
- Partial duplication of the long arm of chromosome 13 syndrome ORPHA:262932
- Partial duplication of the long arm of chromosome 14 syndrome ORPHA:262941
- Distal duplication 14q syndrome ORPHA:1705
- 14q11.2 microduplication syndrome ORPHA:261229
- 14q32 duplication syndrome ORPHA:488280
- Partial duplication of the long arm of chromosome 15 syndrome ORPHA:262950
- Partial duplication of the long arm of chromosome 22 syndrome ORPHA:263004
- Autosomal uniparental disomy syndrome ORPHA:98152
- Maternal uniparental disomy syndrome ORPHA:98153
- Maternal uniparental disomy of chromosome 2 syndrome ORPHA:96179
- Maternal uniparental disomy of chromosome 4 syndrome ORPHA:96180
- Maternal uniparental disomy of chromosome 6 syndrome ORPHA:96181
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 ORPHA:96182
- Maternal uniparental disomy of chromosome 9 syndrome ORPHA:96183
- Temple syndrome due to maternal uniparental disomy of chromosome 14 ORPHA:96184
- Maternal uniparental disomy of chromosome 16 syndrome ORPHA:96185
- Maternal uniparental disomy of chromosome 20 syndrome ORPHA:96186
- Maternal uniparental disomy of chromosome 21 syndrome ORPHA:96187
- Maternal uniparental disomy of chromosome 22 syndrome ORPHA:96188
- Maternal uniparental disomy of chromosome 13 syndrome ORPHA:97678
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 ORPHA:98754
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 ORPHA:231147
- Maternal uniparental disomy of chromosome 1 syndrome ORPHA:251009
- Paternal uniparental disomy syndrome ORPHA:98154
- Paternal uniparental disomy of chromosome 5 syndrome ORPHA:96190
- Paternal uniparental disomy of chromosome 6 syndrome ORPHA:96191
- Paternal uniparental disomy of chromosome 7 syndrome ORPHA:96192
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Paternal uniparental disomy of chromosome 20 syndrome ORPHA:96194
- Paternal uniparental disomy of chromosome 21 syndrome ORPHA:96195
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 ORPHA:96334
- Angelman syndrome due to paternal uniparental disomy of chromosome 15 ORPHA:98795
- Paternal uniparental disomy of chromosome 13 syndrome ORPHA:99324
- Paternal uniparental disomy of chromosome 1 syndrome ORPHA:251004
- Mosaic genome-wide paternal uniparental disomy syndrome ORPHA:329813
- Autosomal monosomy syndrome ORPHA:102020
- Total autosomal monosomy syndrome ORPHA:98141
- Partial autosomal deletion syndrome ORPHA:98142
- Partial deletion of chromosome 1 syndrome ORPHA:261766
- Partial deletion of the short arm of chromosome 1 syndrome ORPHA:261857
- 1p36 deletion syndrome ORPHA:1606
- 1p21.3 microdeletion syndrome ORPHA:293948
- 1p31p32 microdeletion syndrome ORPHA:401986
- Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster ORPHA:615986
- 1p35.2 microdeletion syndrome ORPHA:456298
- Partial deletion of the long arm of chromosome 1 syndrome ORPHA:262001
- Partial deletion of chromosome 2 syndrome ORPHA:261771
- Partial deletion of the short arm of chromosome 2 syndrome ORPHA:261866
- 2p15p16.1 microdeletion syndrome ORPHA:261349
- 2p13.2 microdeletion syndrome ORPHA:363680
- Homozygous 2p21 microdeletion syndrome ORPHA:369886
- Partial deletion of the long arm of chromosome 2 syndrome ORPHA:262010
- 2q37 microdeletion syndrome ORPHA:1001
- Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion ORPHA:1617
- 2q23.1 microdeletion syndrome ORPHA:228402
- 2q31.1 microdeletion syndrome ORPHA:251014
- 2q32q33 deletion syndrome ORPHA:251019
- SATB2-associated syndrome due to a chromosomal rearrangement ORPHA:251028
- Mowat-Wilson syndrome due to monosomy 2q22 ORPHA:261537
- 2q13 microdeletion syndrome ORPHA:684742
- Partial deletion of chromosome 3 syndrome ORPHA:261776
- Partial deletion of the short arm of chromosome 3 syndrome ORPHA:261875
- Partial deletion of the long arm of chromosome 3 syndrome ORPHA:262019
- Partial deletion of chromosome 4 syndrome ORPHA:261781
- Partial deletion of the short arm of chromosome 4 syndrome ORPHA:261884
- Partial deletion of the long arm of chromosome 4 syndrome ORPHA:262029
- Partial deletion of chromosome 5 syndrome ORPHA:261786
- Partial deletion of the short arm of chromosome 5 syndrome ORPHA:261893
- Partial deletion of the long arm of chromosome 5 syndrome ORPHA:262038
- Sotos syndrome ORPHA:821
- Deletion 5q35 syndrome ORPHA:1627
- 5q14.3 microdeletion syndrome ORPHA:228384
- Familial adenomatous polyposis due to 5q22.2 microdeletion ORPHA:261584
- Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion ORPHA:314655
- Contractures-developmental delay-Pierre Robin syndrome ORPHA:436003
- Partial deletion of chromosome 6 syndrome ORPHA:261791
- Partial deletion of the short arm of chromosome 6 syndrome ORPHA:261902
- Partial deletion of the long arm of chromosome 6 syndrome ORPHA:262047
- Partial deletion of chromosome 7 syndrome ORPHA:261796
- Partial deletion of the short arm of chromosome 7 syndrome ORPHA:261911
- Distal deletion 7p syndrome ORPHA:96126
- Greig cephalopolysyndactyly-contiguous gene syndrome ORPHA:658805
- Partial deletion of the long arm of chromosome 7 syndrome ORPHA:262056
- Partial deletion of chromosome 8 syndrome ORPHA:261801
- Partial deletion of the short arm of chromosome 8 syndrome ORPHA:261920
- Partial deletion of the long arm of chromosome 8 syndrome ORPHA:262065
- Partial deletion of chromosome 9 syndrome ORPHA:261806
- Partial deletion of the short arm of chromosome 9 syndrome ORPHA:261929
- Distal deletion 9p syndrome ORPHA:1642
- Monosomy 9p syndrome ORPHA:261112
- 9p13 microdeletion syndrome ORPHA:324313
- Partial deletion of the long arm of chromosome 9 syndrome ORPHA:262074
- Monosomy 9q22.3 syndrome ORPHA:77301
- Kleefstra syndrome due to 9q34 microdeletion ORPHA:96147
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion ORPHA:352665
- 9q31.1q31.3 microdeletion syndrome ORPHA:401923
- 9q33.3q34.11 microdeletion syndrome ORPHA:495818
- 9q21.13 microdeletion syndrome ORPHA:531151
- Partial deletion of chromosome 10 syndrome ORPHA:261811
- Partial deletion of the short arm of chromosome 10 syndrome ORPHA:261938
- Distal deletion 10p syndrome ORPHA:1580
- 10p13-p14 deletion syndrome ORPHA:687695
- ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion ORPHA:687424
- Hypoparathyroidism-sensorineural deafness-renal disease syndrome ORPHA:2237
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion ORPHA:284169
- Partial deletion of the long arm of chromosome 10 syndrome ORPHA:262083
- Partial deletion of chromosome 11 syndrome ORPHA:261816
- Partial deletion of the short arm of chromosome 11 syndrome ORPHA:261947
- WAGR syndrome ORPHA:893
- Potocki-Shaffer syndrome ORPHA:52022
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Partial deletion of the long arm of chromosome 11 syndrome ORPHA:262092
- Partial deletion of chromosome 16 syndrome ORPHA:261826
- Partial deletion of the short arm of chromosome 16 syndrome ORPHA:261956
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis ORPHA:88924
- Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 ORPHA:98791
- Proximal 16p11.2 microdeletion syndrome ORPHA:261197
- 16p11.2p12.2 microdeletion syndrome ORPHA:261211
- Distal 16p11.2 microdeletion syndrome ORPHA:261222
- 16p13.11 microdeletion syndrome ORPHA:261236
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Hao-Fountain syndrome due to 16p13.2 microdeletion ORPHA:500055
- Partial deletion of the long arm of chromosome 16 syndrome ORPHA:262128
- Partial deletion of chromosome 17 syndrome ORPHA:261831
- Partial deletion of the short arm of chromosome 17 syndrome ORPHA:261965
- Hereditary neuropathy with liability to pressure palsies ORPHA:640
- Smith-Magenis syndrome ORPHA:819
- Miller-Dieker syndrome ORPHA:531
- Distal 17p13.3 microdeletion syndrome ORPHA:261257
- Distal 17p13.1 microdeletion syndrome ORPHA:319171
- Partial deletion of the long arm of chromosome 17 syndrome ORPHA:262137
- Partial deletion of chromosome 18 syndrome ORPHA:261836
- Partial deletion of the short arm of chromosome 18 syndrome ORPHA:261974
- Partial deletion of the long arm of chromosome 18 syndrome ORPHA:262146
- Partial deletion of chromosome 19 syndrome ORPHA:261841
- Partial deletion of the short arm of chromosome 19 syndrome ORPHA:261983
- Distal deletion 19p syndrome ORPHA:96129
- 19p13.12 microdeletion syndrome ORPHA:254346
- 19p13.13 microdeletion syndrome ORPHA:357001
- Partial deletion of the long arm of chromosome 19 syndrome ORPHA:262155
- Partial deletion of chromosome 20 syndrome ORPHA:261846
- Partial deletion of the short arm of chromosome 20 syndrome ORPHA:261992
- 20p12.3 microdeletion syndrome ORPHA:261295
- Alagille syndrome due to 20p12 microdeletion ORPHA:261600
- 20p13 microdeletion syndrome ORPHA:313781
- Partial deletion of the long arm of chromosome 20 syndrome ORPHA:262164
- Partial deletion of the long arm of chromosome 13 syndrome ORPHA:262101
- Monosomy 13q14 syndrome ORPHA:1587
- Distal deletion 13q syndrome ORPHA:1590
- Monosomy 13q34 syndrome ORPHA:96168
- 13q12.3 microdeletion syndrome ORPHA:412035
- Partial deletion of the long arm of chromosome 14 syndrome ORPHA:262110
- Distal deletion 14q syndrome ORPHA:96150
- Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion ORPHA:254528
- Temple syndrome due to paternal 14q32.2 microdeletion ORPHA:254525
- 14q11.2 microdeletion syndrome ORPHA:261120
- FOXG1 syndrome due to 14q12 microdeletion ORPHA:261144
- 14q22q23 microdeletion syndrome ORPHA:264200
- 14q24.1q24.3 microdeletion syndrome ORPHA:401935
- Partial deletion of the long arm of chromosome 15 syndrome ORPHA:262119
- Distal deletion 15q syndrome ORPHA:1596
- Deafness-infertility syndrome ORPHA:94064
- 15q24 microdeletion syndrome ORPHA:94065
- Prader-Willi syndrome due to paternal 15q11q13 deletion ORPHA:98793
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 ORPHA:177901
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 ORPHA:177904
- Angelman syndrome due to maternal 15q11q13 deletion ORPHA:98794
- 15q13.3 microdeletion syndrome ORPHA:199318
- 15q11.2 microdeletion syndrome ORPHA:261183
- Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion ORPHA:261190
- Partial deletion of the long arm of chromosome 21 syndrome ORPHA:262173
- 21q deletion syndrome ORPHA:574
- 21q22.11q22.12 microdeletion syndrome ORPHA:261323
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion ORPHA:268261
- Partial deletion of the long arm of chromosome 22 syndrome ORPHA:262182
- 22q11.2 deletion syndrome ORPHA:567
- Phelan-McDermid syndrome due to 22q13.3 deletion ORPHA:662169
- Distal 22q11.2 microdeletion syndrome ORPHA:261330
- Partial deletion of chromosome 12 syndrome ORPHA:282124
- Partial deletion of the long arm of chromosome 12 syndrome ORPHA:261821
- 12q14 microdeletion syndrome ORPHA:94063
- Distal deletion 12q syndrome ORPHA:96149
- Non-distal deletion 12q syndrome ORPHA:96160
- 12q15q21 microdeletion syndrome ORPHA:289513
- Partial deletion of the short arm of chromosome 12 syndrome ORPHA:316244
- Complex chromosomal rearrangement syndrome ORPHA:263708
- Cat-eye syndrome ORPHA:195
- Inverted duplicated chromosome 15 syndrome ORPHA:3306
- 8p inverted duplication/deletion syndrome ORPHA:96092
- Recombinant 8 syndrome ORPHA:96167
- Emanuel syndrome ORPHA:96170
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Intellectual disability-seizures-macrocephaly-obesity syndrome ORPHA:369950
- Overgrowth syndrome with 2q37 translocation ORPHA:498488
- Sex-chromosome anomaly syndrome ORPHA:98155
- Sex-chromosome number anomaly syndrome ORPHA:98156
- X chromosome number anomaly syndrome ORPHA:263714
- X chromosome number anomaly with female phenotype syndrome ORPHA:263717
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- Polysomy of X chromosome syndrome ORPHA:263723
- X chromosome number anomaly with male phenotype syndrome ORPHA:263720
- Y chromosome number anomaly syndrome ORPHA:263746
- 47,XYY syndrome ORPHA:8
- 45,X/46,XY mixed gonadal dysgenesis ORPHA:1772
- 48,XYYY syndrome ORPHA:99329
- 49,XYYYY syndrome ORPHA:99330
- X and Y chromosomal anomaly syndrome ORPHA:263749
- Sex-chromosome structural anomaly syndrome ORPHA:98157
- Chromosome Y structural anomaly syndrome ORPHA:98158
- Chromosome Y microdeletion syndrome ORPHA:1646
- Isochromosome Y syndrome ORPHA:96325
- Ring chromosome Y syndrome ORPHA:261529
- Chromosome X structural anomaly syndrome ORPHA:98159
- X small rings syndrome ORPHA:96201
- Partial deletion of chromosome X syndrome ORPHA:263726
- Partial deletion of the short arm of the chromosome X syndrome ORPHA:263731
- Xp22.3 microdeletion syndrome ORPHA:1643
- X-linked intellectual disability-retinitis pigmentosa syndrome ORPHA:85332
- Xp21 deletion syndrome ORPHA:261476
- Atypical Norrie disease due to Xp11.3 microdeletion ORPHA:261501
- Partial deletion of the long arm of chromosome X syndrome ORPHA:263756
- Partial duplication of chromosome X syndrome ORPHA:263768
- Partial duplication of the short arm of chromosome X syndrome ORPHA:263775
- Partial duplication of the long arm of chromosome X syndrome ORPHA:263783
- Uniparental disomy of chromosome X syndrome ORPHA:263793
- Multiple congenital anomalies/dysmorphic syndrome ORPHA:68341
- Lethal multiple congenital anomalies/dysmorphic syndrome ORPHA:459787
- Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome ORPHA:2570
- Lethal brain and heart developmental defects ORPHA:580933
- Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome ORPHA:615954
- Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation ORPHA:615983
- Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster ORPHA:615986
- Diaphragmatic hernia-short bowel-asplenia syndrome ORPHA:527468
- Aprosencephaly/atelencephaly spectrum ORPHA:566847
- PAICS deficiency ORPHA:633099
- Lethal hydranencephaly-diaphragmatic hernia syndrome ORPHA:480528
- Meckel syndrome ORPHA:564
- Bartsocas-Papas syndrome ORPHA:1234
- Thakker-Donnai syndrome ORPHA:1780
- Edinburgh malformation syndrome ORPHA:1895
- Diprosopus ORPHA:1681
- Endocrine-cerebro-osteodysplasia syndrome ORPHA:199332
- Lethal polymalformative syndrome, Boissel type ORPHA:210144
- Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome ORPHA:444069
- Lethal multiple pterygium syndrome ORPHA:33108
- Lethal faciocardiomelic dysplasia ORPHA:1972
- Macrosomia-microphthalmia-cleft palate syndrome ORPHA:2432
- Microphthalmia-microtia-fetal akinesia syndrome ORPHA:2547
- Triploidy syndrome ORPHA:3376
- Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome ORPHA:500135
- German syndrome ORPHA:2077
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disability ORPHA:102283
- Spastic paraplegia-severe developmental delay-epilepsy syndrome ORPHA:464282
- Short stature-brachydactyly-obesity-global developmental delay syndrome ORPHA:464288
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ORPHA:496641
- COG1-CDG ORPHA:263508
- Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome ORPHA:314555
- FG syndrome type 1 ORPHA:93932
- Angelman syndrome ORPHA:72
- Angelman syndrome due to maternal 15q11q13 deletion ORPHA:98794
- Angelman syndrome due to paternal uniparental disomy of chromosome 15 ORPHA:98795
- Angelman syndrome due to imprinting defect in 15q11-q13 ORPHA:411515
- Angelman syndrome due to a point mutation ORPHA:411511
- Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome ORPHA:280679
- Microphthalmia-brain atrophy syndrome ORPHA:77299
- 48,XXXY syndrome ORPHA:96263
- S-adenosylhomocysteine hydrolase deficiency ORPHA:88618
- 49,XXXXY syndrome ORPHA:96264
- MEHMO syndrome ORPHA:85282
- X-linked intellectual disability, Schimke type ORPHA:85285
- X-linked intellectual disability, Stocco Dos Santos type ORPHA:85288
- X-linked intellectual disability-macrocephaly-macroorchidism syndrome ORPHA:85320
- X-linked intellectual disability, Seemanova type ORPHA:85323
- X-linked intellectual disability, Shrimpton type ORPHA:85324
- X-linked spinocerebellar ataxia type 3 ORPHA:85297
- X-linked intellectual disability-acromegaly-hyperactivity syndrome ORPHA:85327
- X-linked intellectual disability, Najm type ORPHA:163937
- X-linked intellectual disability, Nascimento type ORPHA:163956
- X-linked cerebral-cerebellar-coloboma syndrome ORPHA:163961
- X-linked dominant chondrodysplasia, Chassaing-Lacombe type ORPHA:163966
- X-linked intellectual disability, Cilliers type ORPHA:163971
- X-linked intellectual disability, Van Esch type ORPHA:163976
- X-linked intellectual disability-craniofacioskeletal syndrome ORPHA:163979
- ARX-related encephalopathy-brain malformation spectrum ORPHA:423655
- Corpus callosum agenesis-abnormal genitalia syndrome ORPHA:2508
- X-linked lissencephaly with abnormal genitalia ORPHA:452
- 48,XYYY syndrome ORPHA:99329
- 17q11.2 microduplication syndrome ORPHA:139474
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome ORPHA:163649
- Spondyloepiphyseal dysplasia tarda, Kohn type ORPHA:163665
- Macrocephaly-intellectual disability-autism syndrome ORPHA:210548
- Polymicrogyria with optic nerve hypoplasia ORPHA:250972
- Temple syndrome ORPHA:254516
- Temple syndrome due to maternal uniparental disomy of chromosome 14 ORPHA:96184
- Temple syndrome due to paternal 14q32.2 microdeletion ORPHA:254525
- Temple syndrome due to paternal 14q32.2 hypomethylation ORPHA:254531
- 2q23.1 microduplication syndrome ORPHA:313947
- Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom ORPHA:500159
- 9p13 microdeletion syndrome ORPHA:324313
- Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome ORPHA:352530
- Intellectual disability-strabismus syndrome ORPHA:363528
- Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ORPHA:369939
- FOXP1 Syndrome ORPHA:391372
- Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome ORPHA:391408
- MEND syndrome ORPHA:401973
- Keppen-Lubinsky syndrome ORPHA:435628
- Joubert syndrome with ocular defect ORPHA:220493
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ORPHA:83473
- COG7-CDG ORPHA:79333
- Muenke syndrome ORPHA:53271
- Hurler syndrome ORPHA:93473
- Ogden syndrome ORPHA:276432
- Joubert syndrome with renal defect ORPHA:220497
- 2q32q33 deletion syndrome ORPHA:251019
- Lathosterolosis ORPHA:46059
- Pontocerebellar hypoplasia type 10 ORPHA:411493
- Microphthalmia with brain and digit anomalies ORPHA:139471
- Pontocerebellar hypoplasia type 7 ORPHA:284339
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation ORPHA:300570
- RIN2 syndrome ORPHA:217335
- Spondylo-ocular syndrome ORPHA:85194
- Frontonasal dysplasia-alopecia-genital anomalies syndrome ORPHA:228390
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome ORPHA:397709
- Microcephaly-thin corpus callosum-intellectual disability syndrome ORPHA:397951
- Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome ORPHA:397973
- 9q31.1q31.3 microdeletion syndrome ORPHA:401923
- 14q24.1q24.3 microdeletion syndrome ORPHA:401935
- Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency ORPHA:404440
- Tatton-Brown-Rahman syndrome ORPHA:404443
- ADNP syndrome ORPHA:404448
- FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome ORPHA:404451
- Intellectual disability-peripheral spasticity-exudative vitreoretinopathy syndrome ORPHA:404473
- Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome ORPHA:496693
- Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome ORPHA:411986
- 13q12.3 microdeletion syndrome ORPHA:412035
- Temple-Baraitser syndrome ORPHA:420561
- Cono-spondylar dysplasia ORPHA:420794
- Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome ORPHA:423306
- X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome ORPHA:431140
- Orofaciodigital syndrome type 14 ORPHA:434179
- X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome ORPHA:435938
- HIDEA syndrome ORPHA:436141
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome ORPHA:438213
- Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion ORPHA:314655
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation ORPHA:438216
- PDE4D haploinsufficiency syndrome ORPHA:439822
- 11q22.2q22.3 microdeletion syndrome ORPHA:444002
- 20q11.2 microdeletion syndrome ORPHA:444051
- Cerebellar-facial-dental syndrome ORPHA:444072
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome ORPHA:444077
- 2q23.1 microdeletion syndrome ORPHA:228402
- CHIME syndrome ORPHA:3474
- Brachydactyly-nystagmus-cerebellar ataxia syndrome ORPHA:1246
- Desmosterolosis ORPHA:35107
- Smith-Lemli-Opitz syndrome ORPHA:818
- Isolated anencephaly/exencephaly ORPHA:1048
- Polymicrogyria ORPHA:35981
- Bilateral polymicrogyria ORPHA:268940
- Bilateral perisylvian polymicrogyria ORPHA:98889
- Bilateral frontoparietal polymicrogyria ORPHA:101070
- Bilateral parasagittal parieto-occipital polymicrogyria ORPHA:208441
- Bilateral frontal polymicrogyria ORPHA:208444
- Bilateral generalized polymicrogyria ORPHA:208447
- Unilateral polymicrogyria ORPHA:268943
- Congenital cataracts-facial dysmorphism-neuropathy syndrome ORPHA:48431
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ORPHA:52055
- X-linked creatine transporter deficiency ORPHA:52503
- Atelosteogenesis type II ORPHA:56304
- Atelosteogenesis type III ORPHA:56305
- Cerebrooculonasal syndrome ORPHA:66625
- Goldberg-Shprintzen megacolon syndrome ORPHA:66629
- Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome ORPHA:73246
- Brain malformation-congenital heart disease-postaxial polydactyly syndrome ORPHA:75389
- Mandibulofacial dysostosis-microcephaly syndrome ORPHA:79113
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome ORPHA:83617
- Keutel syndrome ORPHA:85202
- X-linked intellectual disability, Abidi type ORPHA:85273
- Syndromic X-linked intellectual disability 7 ORPHA:85274
- Microphthalmia-ankyloblepharon-intellectual disability syndrome ORPHA:85275
- X-linked intellectual disability, Armfield type ORPHA:85276
- Christianson syndrome ORPHA:85278
- KDM5C-related syndromic X-linked intellectual disability ORPHA:85279
- X-linked intellectual disability-cubitus valgus-dysmorphism syndrome ORPHA:85280
- X-linked intellectual disability, Miles-Carpenter type ORPHA:85283
- BRESEK syndrome ORPHA:85284
- X-linked intellectual disability, Shashi type ORPHA:85286
- Overgrowth-macrocephaly-facial dysmorphism syndrome ORPHA:137634
- X-linked intellectual disability, Siderius type ORPHA:85287
- X-linked intellectual disability, Cabezas type ORPHA:85293
- X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome ORPHA:85317
- X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome ORPHA:85319
- Deafness-intellectual disability syndrome, Martin-Probst type ORPHA:85321
- X-linked intellectual disability, Pai type ORPHA:85322
- X-linked intellectual disability, Stevenson type ORPHA:85325
- X-linked intellectual disability, Stoll type ORPHA:85326
- X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome ORPHA:85329
- Fried syndrome ORPHA:85335
- Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome ORPHA:86818
- Sialidosis type 2 ORPHA:87876
- Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia ORPHA:94066
- Distal deletion 6p syndrome ORPHA:96125
- Koolen-De Vries syndrome ORPHA:96169
- 17q21.31 microdeletion syndrome ORPHA:363958
- Koolen-De Vries syndrome due to a point mutation ORPHA:363965
- Bohring-Opitz syndrome ORPHA:97297
- Biemond syndrome type 2 ORPHA:141333
- 15q13.3 microdeletion syndrome ORPHA:199318
- Zechi-Ceide syndrome ORPHA:217017
- 17q21.31 microduplication syndrome ORPHA:217340
- 19q13.11 microdeletion syndrome ORPHA:217346
- Microduplication Xp11.22p11.23 syndrome ORPHA:217377
- 17p13.3 microduplication syndrome ORPHA:217385
- Pseudoaminopterin syndrome ORPHA:221120
- Syndromic multisystem autoimmune disease due to Itch deficiency ORPHA:228426
- Kagami-Ogata syndrome ORPHA:254519
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 ORPHA:96334
- Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion ORPHA:254528
- Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation ORPHA:254534
- Kleefstra syndrome ORPHA:261494
- Kleefstra syndrome due to 9q34 microdeletion ORPHA:96147
- Kleefstra syndrome due to a point mutation ORPHA:261652
- Multiple congenital anomalies-hypotonia-seizures syndrome ORPHA:280633
- 8q21.11 microdeletion syndrome ORPHA:284160
- Xp22.13p22.2 duplication syndrome ORPHA:284180
- Microtriplication 11q24.1 syndrome ORPHA:289522
- Blepharophimosis-intellectual disability syndrome ORPHA:293642
- SMARCA2-related blepharophimosis-intellectual disability syndrome ORPHA:637013
- Distal deletion 3p syndrome ORPHA:1620
- Blepharophimosis-intellectual disability syndrome, Ohdo type ORPHA:2728
- Blepharophimosis-intellectual disability syndrome, SBBYS type ORPHA:3047
- Blepharophimosis-intellectual disability syndrome, MKB type ORPHA:293707
- Blepharophimosis-intellectual disability syndrome, Verloes type ORPHA:293725
- 3MC syndrome ORPHA:293843
- 11p15.4 microduplication syndrome ORPHA:300305
- Multiple congenital anomalies-hypotonia-seizures syndrome type 2 ORPHA:300496
- 20p13 microdeletion syndrome ORPHA:313781
- Jawad syndrome ORPHA:313795
- 7p22.1 microduplication syndrome ORPHA:314034
- Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome ORPHA:314575
- 15q overgrowth syndrome ORPHA:314585
- Cerebrofacioarticular syndrome ORPHA:314679
- Distal 17p13.1 microdeletion syndrome ORPHA:319171
- Wiedemann-Steiner syndrome ORPHA:319182
- Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome ORPHA:324416
- Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome ORPHA:324540
- Microcephalic primordial dwarfism ORPHA:324761
- Seckel syndrome ORPHA:808
- Ear-patella-short stature syndrome ORPHA:2554
- Microcephalic primordial dwarfism, Toriello type ORPHA:2643
- Microcephalic osteodysplastic primordial dwarfism types I and III ORPHA:2636
- Microcephalic osteodysplastic primordial dwarfism type II ORPHA:2637
- Microcephalic osteodysplastic dysplasia, Saul-Wilson type ORPHA:85172
- Alazami syndrome ORPHA:319671
- Microcephalic primordial dwarfism, Dauber type ORPHA:319675
- Microcephalic primordial dwarfism due to ZNF335 deficiency ORPHA:329228
- Microcephalic cortical malformations-short stature due to RTTN deficiency ORPHA:468631
- DNMT3A-related microcephalic dwarfism ORPHA:658595
- DONSON-related microcephaly-short stature-limb abnormalities spectrum ORPHA:572761
- Schuurs-Hoeijmakers syndrome ORPHA:329224
- Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome ORPHA:329332
- 5p13 microduplication syndrome ORPHA:329802
- Autism spectrum disorder due to AUTS2 deficiency ORPHA:352490
- Bainbridge-Ropers syndrome ORPHA:352577
- 19p13.13 microdeletion syndrome ORPHA:357001
- Short ulna-dysmorphism-hypotonia-intellectual disability syndrome ORPHA:357175
- THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome ORPHA:363444
- CTCF-related neurodevelopmental disorder ORPHA:363611
- 20q11.2 microduplication syndrome ORPHA:363659
- 2p13.2 microdeletion syndrome ORPHA:363680
- Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ORPHA:363686
- Craniofaciofrontodigital syndrome ORPHA:363705
- Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome ORPHA:363741
- Shwachman-Diamond syndrome ORPHA:811
- X-linked intellectual disability due to GRIA3 mutations ORPHA:364028
- Intellectual disability-brachydactyly-Pierre Robin syndrome ORPHA:364577
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome ORPHA:369837
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency ORPHA:369891
- Intellectual disability-seizures-macrocephaly-obesity syndrome ORPHA:369950
- Intellectual disability-facial dysmorphism-hand anomalies syndrome ORPHA:370010
- SSR4-CDG ORPHA:370927
- XYLT1-CDG ORPHA:370930
- Hypotonia-speech impairment-severe cognitive delay syndrome ORPHA:371364
- Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome ORPHA:391307
- Macrocephaly-developmental delay syndrome ORPHA:397612
- Lissencephaly ORPHA:48471
- Microlissencephaly ORPHA:1083
- Cobblestone lissencephaly ORPHA:51577
- Cobblestone lissencephaly without muscular or ocular involvement ORPHA:352682
- Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ORPHA:352687
- Lissencephaly with cerebellar hypoplasia ORPHA:86823
- Lissencephaly with cerebellar hypoplasia type A ORPHA:100011
- Lissencephaly with cerebellar hypoplasia type B ORPHA:100012
- Lissencephaly with cerebellar hypoplasia type C ORPHA:100013
- Lissencephaly with cerebellar hypoplasia type D ORPHA:100014
- Lissencephaly with cerebellar hypoplasia type E ORPHA:100015
- Lissencephaly with cerebellar hypoplasia type F ORPHA:100016
- Classic lissencephaly ORPHA:102009
- Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome ORPHA:572013
- Lissencephaly type 1 due to doublecortin gene mutation ORPHA:2148
- Miller-Dieker syndrome ORPHA:531
- Isolated lissencephaly type 1 without known genetic defects ORPHA:1084
- Lissencephaly due to LIS1 mutation ORPHA:95232
- Other syndrome with lissencephaly as a major feature ORPHA:102010
- Craniotelencephalic dysplasia ORPHA:1528
- Micro syndrome ORPHA:2510
- Baraitser-Winter cerebrofrontofacial syndrome ORPHA:2995
- X-linked lissencephaly with abnormal genitalia ORPHA:452
- Lissencephaly type 3 ORPHA:102011
- Neu-Laxova syndrome ORPHA:2671
- Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency ORPHA:583607
- Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency ORPHA:583612
- Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency ORPHA:583602
- Lissencephaly type 3-familial fetal akinesia sequence syndrome ORPHA:86821
- Lissencephaly type 3-metacarpal bone dysplasia syndrome ORPHA:86822
- Lissencephaly due to TUBA1A mutation ORPHA:171680
- Phelan-McDermid syndrome ORPHA:48652
- Phelan-McDermid syndrome due to SHANK3 mutation ORPHA:662172
- Phelan-McDermid syndrome due to 22q13.3 deletion ORPHA:662169
- Microlissencephaly-micromelia syndrome ORPHA:50810
- Megalencephaly-capillary malformation-polymicrogyria syndrome ORPHA:60040
- Lipodystrophy-intellectual disability-deafness syndrome ORPHA:50811
- Distal deletion 1q syndrome ORPHA:36367
- Grange syndrome ORPHA:79094
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
- Branchiogenic deafness syndrome ORPHA:50815
- Anophthalmia/microphthalmia-esophageal atresia syndrome ORPHA:77298
- X-linked intellectual disability-cerebellar hypoplasia syndrome ORPHA:137831
- Hyperphosphatasia-intellectual disability syndrome ORPHA:247262
- Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome ORPHA:436245
- Symptomatic form of Coffin-Lowry syndrome in female carriers ORPHA:276630
- LIG4 syndrome ORPHA:99812
- Occipital horn syndrome ORPHA:198
- PHACE syndrome ORPHA:42775
- Char syndrome ORPHA:46627
- Potocki-Shaffer syndrome ORPHA:52022
- Carpenter syndrome ORPHA:65759
- Bosley-Salih-Alorainy syndrome ORPHA:69737
- King-Denborough syndrome ORPHA:99741
- Combined immunodeficiency with facio-oculo-skeletal anomalies ORPHA:221139
- Dysmorphism-conductive hearing loss-heart defect syndrome ORPHA:289553
- Prader-Willi-like syndrome ORPHA:398073
- CPE-related Prader-Willi-like syndrome ORPHA:633028
- 6q16 microdeletion syndrome ORPHA:171829
- SIM1-related Prader-Willi-like syndrome ORPHA:398079
- Schaaf-Yang syndrome ORPHA:398069
- 1p31p32 microdeletion syndrome ORPHA:401986
- Malan overgrowth syndrome ORPHA:420179
- Contractures-developmental delay-Pierre Robin syndrome ORPHA:436003
- Otopalatodigital syndrome type 2 ORPHA:90652
- Robinow syndrome ORPHA:97360
- 21q22.11q22.12 microdeletion syndrome ORPHA:261323
- PYCR2-related microcephaly-progressive leukoencephalopathy ORPHA:481152
- CAMOS syndrome ORPHA:83472
- Seizures-intellectual disability due to hydroxylysinuria syndrome ORPHA:79156
- Intellectual disability-spasticity-ectrodactyly syndrome ORPHA:1891
- Fryns-Smeets-Thiry syndrome ORPHA:2058
- Severe X-linked intellectual disability, Gustavson type ORPHA:3078
- Noonan syndrome-like disorder with loose anagen hair ORPHA:2701
- Crane-Heise syndrome ORPHA:1512
- Craniodigital-intellectual disability syndrome ORPHA:1514
- Cryptorchidism-arachnodactyly-intellectual disability syndrome ORPHA:1548
- Temtamy syndrome ORPHA:1777
- Acrofacial dysostosis, Catania type ORPHA:1786
- Acrofacial dysostosis, Rodríguez type ORPHA:1788
- Epiphyseal dysplasia-hearing loss-dysmorphism syndrome ORPHA:1825
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome ORPHA:1970
- Faciocardiorenal syndrome ORPHA:1973
- Acrocardiofacial syndrome ORPHA:2008
- Paraplegia-intellectual disability-hyperkeratosis syndrome ORPHA:2824
- Floating-Harbor syndrome ORPHA:2044
- Fryns syndrome ORPHA:2059
- GAPO syndrome ORPHA:2067
- Prominent glabella-microcephaly-hypogenitalism syndrome ORPHA:2083
- Hall-Riggs syndrome ORPHA:2107
- Harrod syndrome ORPHA:2115
- Hennekam syndrome ORPHA:2136
- Hernández-Aguirre Negrete syndrome ORPHA:2139
- Mowat-Wilson syndrome ORPHA:2152
- Mowat-Wilson syndrome due to monosomy 2q22 ORPHA:261537
- Mowat-Wilson syndrome due to a ZEB2 point mutation ORPHA:261552
- Holoprosencephaly-postaxial polydactyly syndrome ORPHA:2166
- Microcephaly-glomerulonephritis-marfanoid habitus syndrome ORPHA:2172
- Hypertelorism-microtia-facial clefting syndrome ORPHA:2213
- Ramos-Arroyo syndrome ORPHA:1051
- Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome ORPHA:2234
- Hypospadias-intellectual disability, Goldblatt type syndrome ORPHA:2261
- Dysmorphism-short stature-deafness-difference of sex development syndrome ORPHA:2282
- Johanson-Blizzard syndrome ORPHA:2315
- Johnson neuroectodermal syndrome ORPHA:2316
- Kabuki syndrome ORPHA:2322
- Sanjad-Sakati syndrome ORPHA:2323
- Kapur-Toriello syndrome ORPHA:2328
- KBG syndrome ORPHA:2332
- Lowry-MacLean syndrome ORPHA:2409
- Macrocephaly-spastic paraplegia-dysmorphism syndrome ORPHA:2429
- Marden-Walker syndrome ORPHA:2461
- Shprintzen-Goldberg syndrome ORPHA:2462
- Marfanoid habitus-autosomal recessive intellectual disability syndrome ORPHA:2463
- McDonough syndrome ORPHA:2471
- Upper limb defect-eye and ear abnormalities syndrome ORPHA:2489
- Microbrachycephaly-ptosis-cleft lip syndrome ORPHA:2511
- Microcephaly-cardiomyopathy syndrome ORPHA:2515
- Microcephaly-cleft palate-abnormal retinal pigmentation syndrome ORPHA:2521
- Microcephaly-cervical spine fusion anomalies syndrome ORPHA:2522
- Microcephaly-microcornea syndrome, Seemanova type ORPHA:2528
- Microcephaly-deafness-intellectual disability syndrome ORPHA:2533
- Myhre syndrome ORPHA:2588
- N syndrome ORPHA:2608
- Microcephalic primordial dwarfism, Montreal type ORPHA:2617
- Lenz-Majewski hyperostotic dwarfism ORPHA:2658
- Neurofaciodigitorenal syndrome ORPHA:2673
- Oculocerebrofacial syndrome, Kaufman type ORPHA:2707
- Oculofaciocardiodental syndrome ORPHA:2712
- Oculo-palato-cerebral syndrome ORPHA:2714
- Lethal omphalocele-cleft palate syndrome ORPHA:2736
- Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome ORPHA:2743
- W syndrome ORPHA:2804
- Short stature-webbed neck-heart disease syndrome ORPHA:2865
- Pfeiffer-Palm-Teller syndrome ORPHA:2871
- Cardiocranial syndrome, Pfeiffer type ORPHA:2872
- Oliver syndrome ORPHA:2920
- Preaxial polydactyly-colobomata-intellectual disability syndrome ORPHA:2921
- Pseudoprogeria syndrome ORPHA:2985
- Pterygium colli-intellectual disability-digital anomalies syndrome ORPHA:2988
- Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome ORPHA:3038
- Intellectual disability-balding-patella luxation-acromicria syndrome ORPHA:3041
- Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome ORPHA:3044
- Intellectual disability, Buenos-Aires type ORPHA:3079
- Intellectual disability, Wolff type ORPHA:3080
- Ruvalcaba syndrome ORPHA:3121
- Say-Barber-Miller syndrome ORPHA:3132
- SCARF syndrome ORPHA:3134
- Omphalocele syndrome, Shprintzen-Goldberg type ORPHA:3164
- Holoprosencephaly-radial heart renal anomalies syndrome ORPHA:3186
- Stimmler syndrome ORPHA:3199
- Fountain syndrome ORPHA:3219
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome ORPHA:3224
- Renpenning syndrome ORPHA:3242
- X-linked intellectual disability, Porteous type ORPHA:93945
- Hamel cerebro-palato-cardiac syndrome ORPHA:93946
- X-linked intellectual disability, Golabi-Ito-Hall type ORPHA:93947
- X-linked intellectual disability, Sutherland-Haan type ORPHA:93950
- Filippi syndrome ORPHA:3255
- Radioulnar synostosis-developmental delay-hypotonia syndrome ORPHA:3270
- Telecanthus-hypertelorism-strabismus-pes cavus syndrome ORPHA:3293
- Fallot complex-intellectual disability-growth delay syndrome ORPHA:3304
- Trigonocephaly-short stature-developmental delay syndrome ORPHA:3369
- Ulbright-Hodes syndrome ORPHA:3404
- Urban-Rogers-Meyer syndrome ORPHA:3409
- VACTERL with hydrocephalus ORPHA:3412
- Microcephaly-brachydactyly-kyphoscoliosis syndrome ORPHA:3433
- MMEP syndrome ORPHA:3434
- Weaver-Williams syndrome ORPHA:3448
- Wiedemann-Rautenstrauch syndrome ORPHA:3455
- Zimmermann-Laband syndrome ORPHA:3473
- Brachydactyly-mesomelia-intellectual disability-heart defects syndrome ORPHA:1277
- Facial dysmorphism-shawl scrotum-joint laxity syndrome ORPHA:1778
- Intellectual disability-short stature-hypertelorism syndrome ORPHA:3074
- Microcephaly-seizures-intellectual disability-heart disease syndrome ORPHA:2519
- X-linked intellectual disability-plagiocephaly syndrome ORPHA:2898
- Cleft palate-short stature-vertebral anomalies syndrome ORPHA:2015
- Macrocephaly-short stature-paraplegia syndrome ORPHA:2427
- Nicolaides-Baraitser syndrome ORPHA:3051
- Aymé-Gripp syndrome ORPHA:1272
- Arachnodactyly-abnormal ossification-intellectual disability syndrome ORPHA:1129
- Cataract-deafness-hypogonadism syndrome ORPHA:1383
- Caudal appendage-deafness syndrome ORPHA:1123
- Opitz GBBB syndrome ORPHA:2745
- Intellectual disability-polydactyly-uncombable hair syndrome ORPHA:3082
- X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome ORPHA:3055
- Hartsfield syndrome ORPHA:2117
- Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome ORPHA:505237
- Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome ORPHA:589442
- Oculodentodigital dysplasia ORPHA:2710
- Restrictive dermopathy ORPHA:1662
- Toriello-Carey syndrome ORPHA:3338
- Pancreatic agenesis-holoprosencephaly syndrome ORPHA:556955
- RNF13-related severe early-onset epileptic encephalopathy ORPHA:544503
- 17q24.2 microdeletion syndrome ORPHA:529962
- Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome ORPHA:529965
- Gabriele-de Vries syndrome ORPHA:506358
- Craniosynostosis-microretrognathia-severe intellectual disability syndrome ORPHA:565858
- QRICH1-related intellectual disability-chondrodysplasia syndrome ORPHA:580940
- Oculoskeletodental syndrome ORPHA:557003
- Congenital limbs-face contractures-hypotonia-developmental delay syndrome ORPHA:562528
- Anterior maxillary protrusion-strabismus-intellectual disability syndrome ORPHA:562559
- TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome ORPHA:562569
- Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome ORPHA:500533
- CHARGE syndrome ORPHA:138
- Witteveen-Kolk syndrome ORPHA:500163
- 15q24 microdeletion syndrome ORPHA:94065
- SIN3-related intellectual disability syndrome due to a point mutation ORPHA:500166
- Weiss-Kruszka Syndrome ORPHA:502430
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome ORPHA:457193
- X-linked intellectual disability-short stature-overweight syndrome ORPHA:457240
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome ORPHA:457485
- Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome ORPHA:457279
- Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome ORPHA:457284
- Megalencephaly-severe kyphoscoliosis-overgrowth syndrome ORPHA:457359
- Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome ORPHA:457365
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome ORPHA:457395
- Behr syndrome ORPHA:1239
- Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome ORPHA:1236
- Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome ORPHA:1964
- Pitt-Hopkins syndrome ORPHA:2896
- Orofaciodigital syndrome type 5 ORPHA:2919
- 4q25 proximal deletion syndrome ORPHA:502437
- STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome ORPHA:502434
- Otopalatodigital syndrome type 1 ORPHA:90650
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders ORPHA:505248
- Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome ORPHA:476126
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome ORPHA:477993
- PMP22-RAI1 contiguous gene duplication syndrome ORPHA:477817
- X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability ORPHA:480880
- Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome ORPHA:480898
- X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome ORPHA:480907
- Polymicrogyria due to TUBB2B mutation ORPHA:300573
- Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome ORPHA:529665
- DYRK1A-related intellectual disability syndrome ORPHA:464306
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion ORPHA:268261
- Intellectual disability syndrome due to a DYRK1A point mutation ORPHA:464311
- Basel-Vanagaite-Smirin-Yosef syndrome ORPHA:464738
- Megalocornea-intellectual disability syndrome ORPHA:2479
- Fibrodysplasia ossificans progressiva ORPHA:337
- Congenital generalized lipodystrophy ORPHA:528
- Joubert syndrome ORPHA:475
- Autosomal recessive primary microcephaly ORPHA:2512
- Dyggve-Melchior-Clausen disease ORPHA:239
- Fanconi anemia ORPHA:84
- Fraser syndrome ORPHA:2052
- X-linked alpha-thalassemia-intellectual disability syndrome ORPHA:847
- Thumb stiffness-brachydactyly-intellectual disability syndrome ORPHA:1078
- Fragile X syndrome ORPHA:908
- Williams syndrome ORPHA:904
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- Cornelia de Lange syndrome ORPHA:199
- Mucolipidosis type II ORPHA:576
- Holoprosencephaly ORPHA:2162
- Lobar holoprosencephaly ORPHA:93924
- Alobar holoprosencephaly ORPHA:93925
- Midline interhemispheric variant of holoprosencephaly ORPHA:93926
- Semilobar holoprosencephaly ORPHA:220386
- Septopreoptic holoprosencephaly ORPHA:280195
- Coffin-Siris syndrome ORPHA:1465
- Smith-Magenis syndrome ORPHA:819
- Acrocallosal syndrome ORPHA:36
- Cohen syndrome ORPHA:193
- Dubowitz syndrome ORPHA:235
- Trichorhinophalangeal syndrome type 2 ORPHA:502
- Laurence-Moon syndrome ORPHA:2377
- Costello syndrome ORPHA:3071
- Simpson-Golabi-Behmel syndrome ORPHA:373
- Peters plus syndrome ORPHA:709
- Lujan-Fryns syndrome ORPHA:776
- Uveal coloboma-cleft lip and palate-intellectual disability ORPHA:1473
- C syndrome ORPHA:1308
- Proximal Xq28 duplication syndrome ORPHA:1762
- Epilepsy-microcephaly-skeletal dysplasia syndrome ORPHA:1948
- Epilepsy-telangiectasia syndrome ORPHA:1951
- 3C syndrome ORPHA:7
- Agnathia-holoprosencephaly-situs inversus syndrome ORPHA:990
- Aniridia-renal agenesis-psychomotor retardation syndrome ORPHA:1064
- Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome ORPHA:1110
- X-linked mandibulofacial dysostosis ORPHA:1131
- Atkin-Flaitz syndrome ORPHA:1193
- Bannayan-Riley-Ruvalcaba syndrome ORPHA:109
- Blepharonasofacial malformation syndrome ORPHA:1252
- Bonnemann-Meinecke-Reich syndrome ORPHA:1261
- Borjeson-Forssman-Lehmann syndrome ORPHA:127
- Bowen-Conradi syndrome ORPHA:1270
- Lambert syndrome ORPHA:1296
- Branchioskeletogenital syndrome ORPHA:1299
- Cardiofaciocutaneous syndrome ORPHA:1340
- Congenital heart defect-round face-developmental delay syndrome ORPHA:1355
- Cataract-intellectual disability-anal atresia-urinary defects syndrome ORPHA:1381
- Cataract-intellectual disability-hypogonadism syndrome ORPHA:1387
- Catel-Manzke syndrome ORPHA:1388
- Cortical blindness-intellectual disability-polydactyly syndrome ORPHA:1389
- Cerebrofaciothoracic dysplasia ORPHA:1394
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome ORPHA:1495
- WAGR syndrome ORPHA:893
- 19p13.3 microduplication syndrome ORPHA:447980
- Ataxia-photosensitivity-short stature syndrome ORPHA:1184
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus ORPHA:572333
- SATB2-associated syndrome ORPHA:576278
- SATB2-associated syndrome due to a chromosomal rearrangement ORPHA:251028
- SATB2-associated syndrome due to a pathogenic variant ORPHA:576283
- WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome ORPHA:466943
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion ORPHA:284169
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation ORPHA:466950
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome ORPHA:466688
- White-Sutton syndrome ORPHA:468678
- Macrocephaly-intellectual disability-left ventricular non compaction syndrome ORPHA:466791
- SLC39A8-CDG ORPHA:468699
- Richieri Costa-da Silva syndrome ORPHA:3101
- Corpus callosum agenesis-macrocephaly-hypertelorism syndrome ORPHA:459074
- Hypogonadism-mitral valve prolapse-intellectual disability syndrome ORPHA:2233
- X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome ORPHA:459070
- Joubert syndrome with oculorenal defect ORPHA:2318
- Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome ORPHA:459061
- Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation ORPHA:642763
- 8q24.3 microdeletion syndrome ORPHA:508488
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome ORPHA:508498
- Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome ORPHA:1321
- Xq25 microduplication syndrome ORPHA:521258
- PLAA-associated neurodevelopmental disorder ORPHA:521426
- Camptodactyly syndrome, Guadalajara type 3 ORPHA:488434
- Transketolase deficiency ORPHA:488618
- Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome ORPHA:488627
- TBCK-related intellectual disability syndrome ORPHA:488632
- TELO2-related intellectual disability-neurodevelopmental disorder ORPHA:488642
- Brachydactyly-short stature-retinitis pigmentosa syndrome ORPHA:166035
- Stromme syndrome ORPHA:506307
- Familial scaphocephaly syndrome, McGillivray type ORPHA:168624
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome ORPHA:500144
- Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome ORPHA:500150
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome ORPHA:453499
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion ORPHA:352665
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation ORPHA:453504
- 1p35.2 microdeletion syndrome ORPHA:456298
- Infantile multisystem neurologic-endocrine-pancreatic disease ORPHA:456312
- Wolf-Hirschhorn syndrome ORPHA:280
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome ORPHA:508533
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome ORPHA:508542
- Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome ORPHA:513456
- RERE-related neurodevelopmental syndrome ORPHA:494344
- Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ORPHA:494439
- 16p12.1p12.3 triplication syndrome ORPHA:485405
- Takenouchi-Kosaki syndrome ORPHA:487796
- Pierpont syndrome ORPHA:487825
- Down syndrome ORPHA:870
- 9q33.3q34.11 microdeletion syndrome ORPHA:495818
- Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome ORPHA:495875
- Qazi-Markouizos syndrome ORPHA:3010
- Microcephaly-brain defect-spasticity-hypernatremia syndrome ORPHA:2523
- Apert syndrome ORPHA:87
- Coffin-Lowry syndrome ORPHA:192
- Microphthalmia, Lenz type ORPHA:568
- Ramon syndrome ORPHA:3019
- Tall stature-intellectual disability-renal anomalies syndrome ORPHA:500095
- Vici syndrome ORPHA:1493
- Nijmegen breakage syndrome ORPHA:647
- Corpus callosum agenesis-neuronopathy syndrome ORPHA:1496
- Adams-Oliver syndrome ORPHA:974
- White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome ORPHA:3207
- Cooper-Jabs syndrome ORPHA:1488
- Oculocerebral hypopigmentation syndrome, Preus type ORPHA:2720
- Oculocerebral hypopigmentation syndrome, Cross type ORPHA:2719
- KAT6B-related multiple congenital anomalies syndrome ORPHA:597749
- Blepharophimosis-intellectual disability syndrome, SBBYS type ORPHA:3047
- Genitopatellar syndrome ORPHA:85201
- Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome ORPHA:597746
- CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome ORPHA:599082
- Clark-Baraitser syndrome ORPHA:600731
- Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome ORPHA:603448
- Microphthalmia with linear skin defects syndrome ORPHA:2556
- Arachnodactyly-intellectual disability-dysmorphism syndrome ORPHA:1130
- Congenital intrauterine infection-like syndrome ORPHA:1229
- Richards-Rundle syndrome ORPHA:1399
- Ulna hypoplasia-intellectual disability syndrome ORPHA:2249
- Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome ORPHA:2278
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome ORPHA:3363
- Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome ORPHA:71267
- PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ORPHA:589905
- Spondylometaphyseal dysplasia-corneal dystrophy syndrome ORPHA:589435
- KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome ORPHA:603684
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome ORPHA:1812
- Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947
- Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome ORPHA:2773
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome ORPHA:3085
- Autosomal recessive chorioretinopathy-microcephaly syndrome ORPHA:2518
- Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome ORPHA:1014
- Feingold syndrome ORPHA:1305
- Focal epilepsy-intellectual disability-cerebro-cerebellar malformation ORPHA:352587
- Mosaic variegated aneuploidy syndrome ORPHA:1052
- Roberts syndrome ORPHA:3103
- Yunis-Varon syndrome ORPHA:3472
- Matthew-Wood syndrome ORPHA:2470
- Maternal phenylketonuria syndrome ORPHA:2209
- Otofaciocervical syndrome ORPHA:2792
- Keipert syndrome ORPHA:2662
- Ring chromosome 10 syndrome ORPHA:1438
- Gómez-López-Hernández syndrome ORPHA:1532
- Hidrotic ectodermal dysplasia, Halal type ORPHA:1809
- Hepatic fibrosis-renal cysts-intellectual disability syndrome ORPHA:2031
- Galloway-Mowat syndrome ORPHA:2065
- GMS syndrome ORPHA:2090
- Grubben-de Cock-Borghgraef syndrome ORPHA:2101
- Osteopenia-intellectual disability-sparse hair syndrome ORPHA:2324
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Autosomal recessive distal osteolysis syndrome ORPHA:2776
- Osteoporosis-pseudoglioma syndrome ORPHA:2788
- Pachygyria-intellectual disability-epilepsy syndrome ORPHA:2798
- Global developmental delay-osteopenia-ectodermal defect syndrome ORPHA:73223
- Ossification anomalies-psychomotor developmental delay syndrome ORPHA:73230
- 12q14 microdeletion syndrome ORPHA:94063
- Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome ORPHA:2928
- Craniofrontonasal dysplasia ORPHA:1520
- Orofaciodigital syndrome type 1 ORPHA:2750
- X-linked intellectual disability, Snyder type ORPHA:3063
- Van den Bosch syndrome ORPHA:3417
- Wilson-Turner syndrome ORPHA:3459
- Microcephaly-polymicrogyria-corpus callosum agenesis syndrome ORPHA:171703
- Lamb-Shaffer syndrome ORPHA:530983
- 12p12.1 microdeletion syndrome ORPHA:313884
- Developmental and speech delay due to SOX5 deficiency ORPHA:313892
- PRUNE1-related neurological syndrome ORPHA:544469
- Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome ORPHA:544488
- Noonan syndrome ORPHA:648
- Aarskog-Scott syndrome ORPHA:915
- Sotos syndrome ORPHA:821
- Nance-Horan syndrome ORPHA:627
- Campomelic dysplasia ORPHA:140
- Carey-Fineman-Ziter syndrome ORPHA:1358
- Distal limb deficiencies-micrognathia syndrome ORPHA:1307
- Campomelia, Cumming type ORPHA:1318
- Cantú syndrome ORPHA:1517
- Hypomandibular faciocranial dysostosis ORPHA:1790
- Frontometaphyseal dysplasia ORPHA:1826
- Focal dermal hypoplasia ORPHA:2092
- Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome ORPHA:2180
- Isotretinoin-like syndrome ORPHA:2306
- Marshall-Smith syndrome ORPHA:561
- Bardet-Biedl syndrome ORPHA:110
- Roifman syndrome ORPHA:353298
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome ORPHA:589856
- Pontocerebellar hypoplasia type 11 ORPHA:611247
- Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome ORPHA:611207
- Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome ORPHA:598603
- Oculogastrointestinal-neurodevelopmental syndrome ORPHA:611201
- KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome ORPHA:610569
- KLHL7-related Bohring-Opitz-like syndrome ORPHA:603689
- Cockayne syndrome ORPHA:191
- COFS syndrome ORPHA:1466
- Cockayne syndrome type 1 ORPHA:90321
- Cockayne syndrome type 2 ORPHA:90322
- Cockayne syndrome type 3 ORPHA:90324
- 48,XXYY syndrome ORPHA:10
- X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome ORPHA:2958
- Moebius syndrome ORPHA:570
- Silver-Russell syndrome ORPHA:813
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 ORPHA:96182
- Silver-Russell syndrome due to 7p11.2p13 microduplication ORPHA:231137
- Silver-Russell syndrome due to an imprinting defect of 11p15 ORPHA:231140
- Silver-Russell syndrome due to 11p15 microduplication ORPHA:231144
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 ORPHA:231147
- Silver-Russell syndrome due to a point mutation ORPHA:397590
- 17p11.2 microduplication syndrome ORPHA:1713
- 2q37 microdeletion syndrome ORPHA:1001
- Alopecia-contractures-dwarfism-intellectual disability syndrome ORPHA:1005
- TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome ORPHA:592570
- Menke-Hennekam syndrome ORPHA:592574
- SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome ORPHA:597743
- Luscan-Lumish syndrome ORPHA:597738
- CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome ORPHA:600668
- Skeletal dysplasia-epilepsy-short stature syndrome ORPHA:1858
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome ORPHA:1816
- Hypotrichosis-intellectual disability, Lopes type ORPHA:2266
- De Barsy syndrome ORPHA:2962
- Deafness-onychodystrophy syndrome ORPHA:3231
- X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome ORPHA:1568
- X-linked intellectual disability-seizures-psoriasis syndrome ORPHA:3052
- Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome ORPHA:457205
- Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome ORPHA:457212
- Curry-Jones syndrome ORPHA:1553
- Short stature-wormian bones-dextrocardia syndrome ORPHA:2863
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome ORPHA:228410
- 6q25.1 microdeletion syndrome ORPHA:664404
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation ORPHA:664401
- Zellweger syndrome ORPHA:912
- Acromelic frontonasal dysplasia ORPHA:1827
- Wolcott-Rallison syndrome ORPHA:1667
- CODAS syndrome ORPHA:1458
- TARP syndrome ORPHA:2886
- Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome ORPHA:684216
- 2q13 microdeletion syndrome ORPHA:684742
- Pontocerebellar hypoplasia type 13 ORPHA:613267
- Pontocerebellar hypoplasia type 14 ORPHA:613274
- Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome ORPHA:684226
- 10p13-p14 deletion syndrome ORPHA:687695
- ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion ORPHA:687424
- BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome ORPHA:686482
- RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome ORPHA:686488
- MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome ORPHA:686495
- Combined immunodeficiency due to TBX1 deficiency ORPHA:685017
- Turnpenny-Fry syndrome ORPHA:688642
- Okur-Chung neurodevelopmental syndrome ORPHA:689422
- Poirier-Bienvenue neurodevelopmental syndrome ORPHA:689397
- Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome ORPHA:689829
- Shashi-Pena syndrome ORPHA:689408
- 3q26q28 deletion syndrome ORPHA:695611
- CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome ORPHA:692193
- Hereditary persistence of fetal hemoglobin-intellectual disability syndrome ORPHA:619233
- Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome ORPHA:659975
- Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome ORPHA:659904
- Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome ORPHA:660021
- Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome ORPHA:662762
- Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome ORPHA:662175
- Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome ORPHA:662179
- Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome ORPHA:675775
- Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN ORPHA:675782
- Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome ORPHA:664410
- 5q14.3 microdeletion syndrome ORPHA:228384
- Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation ORPHA:664416
- Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome ORPHA:664438
- Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome ORPHA:664430
- Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome ORPHA:664923
- Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome ORPHA:662829
- CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome ORPHA:646278
- KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome ORPHA:633004
- Intellectual disability-early-onset cataract-microcephaly syndrome ORPHA:633035
- Mesomelic dysplasia-digital anomalies-intellectual disability syndrome ORPHA:632603
- CHD8 overgrowth syndrome ORPHA:642675
- Cleft palate-congenital heart defect-intellectual disability syndrome ORPHA:652519
- Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation ORPHA:652514
- Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion ORPHA:261190
- CHD4-related neurodevelopmental disorder ORPHA:653712
- Jansen-de Vries syndrome ORPHA:653767
- Intellectual disability-cupped ears syndrome ORPHA:656135
- PBX1-related congenital anomalies of kidney-urinary tract syndrome ORPHA:656130
- 16q22 deletion syndrome ORPHA:658540
- Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome ORPHA:658843
- Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome ORPHA:659702
- Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome ORPHA:662189
- Neurodevelopmental delay-intellectual disability-skeletal defects syndrome ORPHA:662198
- Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome ORPHA:662207
- Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome ORPHA:662234
- PRC-2 complex-related overgrowth spectrum ORPHA:659387
- Cohen-Gibson syndrome ORPHA:659396
- Weaver syndrome ORPHA:3447
- Imagawa-Matsumoto syndrome ORPHA:659463
- Rauch-Steindl syndrome ORPHA:659642
- Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome ORPHA:659609
- Neurooculocardiogenitourinary syndrome ORPHA:684305
- Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome ORPHA:684232
- Acrodysostosis ORPHA:950
- Difference of sex development-intellectual disability syndrome ORPHA:2983
- Aniridia-ptosis-intellectual disability-familial obesity syndrome ORPHA:1067
- Aniridia-intellectual disability syndrome ORPHA:1068
- Contractures-ectodermal dysplasia-cleft lip/palate syndrome ORPHA:1484
- Nodular neuronal heterotopia ORPHA:2149
- Periventricular nodular heterotopia ORPHA:98892
- Sub-cortical nodular heterotopia ORPHA:101029
- Subependymal nodular heterotopia ORPHA:101030
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome ORPHA:3042
- Spinocerebellar degeneration-corneal dystrophy syndrome ORPHA:3177
- X-linked skeletal dysplasia-intellectual disability syndrome ORPHA:1436
- Keratosis follicularis-dwarfism-cerebral atrophy syndrome ORPHA:2339
- Wieacker-Wolff syndrome ORPHA:3454
- 22q11.2 deletion syndrome ORPHA:567
- Prader-Willi syndrome ORPHA:739
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 ORPHA:98754
- Prader-Willi syndrome due to paternal 15q11q13 deletion ORPHA:98793
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 ORPHA:177901
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 ORPHA:177904
- Prader-Willi syndrome due to translocation ORPHA:177907
- Prader-Willi syndrome due to imprinting mutation ORPHA:177910
- Ablepharon macrostomia syndrome ORPHA:920
- Hypoglossia-hypodactyly syndrome ORPHA:989
- Autosomal dominant popliteal pterygium syndrome ORPHA:1300
- Joubert syndrome with hepatic defect ORPHA:1454
- Ulnar-mammary syndrome ORPHA:3138
- SHORT syndrome ORPHA:3163
- Microgastria-limb reduction defect syndrome ORPHA:2538
- Kallmann syndrome-heart disease syndrome ORPHA:2326
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome ORPHA:2502
- Severe oculo-renal-cerebellar syndrome ORPHA:2715
- Cutaneous mastocytosis-deafness-microtia syndrome ORPHA:2135
- Microphthalmia with limb anomalies ORPHA:1106
- Antley-Bixler syndrome ORPHA:83
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis ORPHA:596008
- Brachymorphism-onychodysplasia-dysphalangism syndrome ORPHA:1292
- Cerebrocostomandibular syndrome ORPHA:1393
- Hallermann-Streiff syndrome ORPHA:2108
- Hallermann-Streiff-like syndrome ORPHA:2109
- Donnai-Barrow syndrome ORPHA:2143
- Pallister-Hall syndrome ORPHA:672
- Autosomal dominant primary microcephaly ORPHA:2514
- Mietens syndrome ORPHA:2557
- Schinzel-Giedion syndrome ORPHA:798
- Multiple congenital anomalies/dysmorphic syndrome without intellectual disability ORPHA:102285
- Split hand-split foot-deafness syndrome ORPHA:71271
- Nasopalpebral lipoma-coloboma syndrome ORPHA:2399
- Dislocation of the hip-dysmorphism syndrome ORPHA:2412
- Czeizel-Losonci syndrome ORPHA:2437
- Hand-foot-genital syndrome ORPHA:2438
- Mandibuloacral dysplasia ORPHA:2457
- Mandibuloacral dysplasia with type A lipodystrophy ORPHA:90153
- Mandibuloacral dysplasia with type B lipodystrophy ORPHA:90154
- Matthew-Wood syndrome ORPHA:2470
- McKusick-Kaufman syndrome ORPHA:2473
- White forelock with malformations ORPHA:2475
- Melnick-Needles syndrome ORPHA:2484
- Müllerian duct anomalies-limb anomalies syndrome ORPHA:2491
- Microcephaly-albinism-digital anomalies syndrome ORPHA:2513
- Microcephaly-cardiac defect-lung malsegmentation syndrome ORPHA:2516
- Oculoauriculovertebral spectrum with radial defects ORPHA:2549
- Pyramidal molars-abnormal upper lip syndrome ORPHA:2561
- 3M syndrome ORPHA:2616
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome ORPHA:2631
- Keipert syndrome ORPHA:2662
- Nephrosis-deafness-urinary tract-digital malformations syndrome ORPHA:2669
- Cyprus facial-neuromusculoskeletal syndrome ORPHA:2674
- PARC syndrome ORPHA:2825
- Short tarsus-absence of lower eyelashes syndrome ORPHA:2832
- Short stature-valvular heart disease-characteristic facies syndrome ORPHA:2868
- PHAVER syndrome ORPHA:2876
- Polysyndactyly-cardiac malformation syndrome ORPHA:2934
- Autosomal dominant prognathism ORPHA:2964
- Autosomal recessive multiple pterygium syndrome ORPHA:2990
- RAPADILINO syndrome ORPHA:3021
- Richieri Costa-Pereira syndrome ORPHA:3102
- Nijmegen breakage syndrome ORPHA:647
- Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome ORPHA:3201
- Deafness-craniofacial syndrome ORPHA:3241
- Tetraamelia-multiple malformations syndrome ORPHA:3301
- Thomas syndrome ORPHA:3316
- Thymic-renal-anal-lung dysplasia ORPHA:3326
- Absent tibia-polydactyly-arachnoid cyst syndrome ORPHA:3328
- Trigonocephaly-bifid nose-acral anomalies syndrome ORPHA:3368
- Van den Ende-Gupta syndrome ORPHA:2460
- Velo-facial-skeletal syndrome ORPHA:3424
- Verloove Vanhorick-Brubakk syndrome ORPHA:3429
- Weill-Marchesani syndrome ORPHA:3449
- Progressive non-infectious anterior vertebral fusion ORPHA:2062
- Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome ORPHA:1101
- Von Voss-Cherstvoy syndrome ORPHA:3439
- Axenfeld-Rieger syndrome ORPHA:782
- Craniolenticulosutural dysplasia ORPHA:50814
- Braddock syndrome ORPHA:52047
- Branchiootic syndrome ORPHA:52429
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome ORPHA:1655
- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome ORPHA:77300
- Grange syndrome ORPHA:79094
- Developmental malformations-deafness-dystonia syndrome ORPHA:79107
- Macrostomia-preauricular tags-external ophthalmoplegia syndrome ORPHA:83619
- LUMBAR syndrome ORPHA:83628
- 49,XYYYY syndrome ORPHA:99330
- Lethal congenital contracture syndrome type 2 ORPHA:137776
- Lethal congenital contracture syndrome type 3 ORPHA:137783
- Syndactyly-telecanthus-anogenital and renal malformations syndrome ORPHA:140952
- Autosomal dominant otospondylomegaepiphyseal dysplasia ORPHA:166100
- 8q22.1 microdeletion syndrome ORPHA:178303
- Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type ORPHA:217026
- BNAR syndrome ORPHA:217266
- Nijmegen breakage syndrome-like disorder ORPHA:240760
- 14q22q23 microdeletion syndrome ORPHA:264200
- Warsaw breakage syndrome ORPHA:280558
- Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome ORPHA:314002
- Greig cephalopolysyndactyly syndrome ORPHA:380
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome ORPHA:2250
- Donohue syndrome ORPHA:508
- Townes-Brocks syndrome ORPHA:857
- BOR syndrome ORPHA:107
- Alagille syndrome ORPHA:52
- Alagille syndrome due to 20p12 microdeletion ORPHA:261600
- Alagille syndrome due to a JAG1 point mutation ORPHA:261619
- Alagille syndrome due to a NOTCH2 point mutation ORPHA:261629
- Treacher-Collins syndrome ORPHA:861
- Nager syndrome ORPHA:245
- Distal arthrogryposis type 1 ORPHA:1146
- Charlie M syndrome ORPHA:1406
- Postaxial acrofacial dysostosis ORPHA:246
- Freeman-Sheldon syndrome ORPHA:2053
- Marshall syndrome ORPHA:560
- VACTERL/VATER association ORPHA:887
- Fanconi anemia ORPHA:84
- Waardenburg syndrome ORPHA:3440
- Waardenburg syndrome type 1 ORPHA:894
- Waardenburg syndrome type 2 ORPHA:895
- Waardenburg syndrome type 3 ORPHA:896
- Van der Woude syndrome ORPHA:888
- Cherubism ORPHA:184
- Holt-Oram syndrome ORPHA:392
- Noonan syndrome with multiple lentigines ORPHA:500
- Fraser syndrome ORPHA:2052
- Heart defects-limb shortening syndrome ORPHA:1354
- Aase-Smith syndrome ORPHA:916
- Abruzzo-Erickson syndrome ORPHA:921
- Acrocraniofacial dysostosis ORPHA:949
- Acrofacial dysostosis, Weyers type ORPHA:952
- Acro-renal-mandibular syndrome ORPHA:958
- Acro-renal-ocular syndrome ORPHA:959
- Acrorenal syndrome ORPHA:971
- PAGOD syndrome ORPHA:991
- Fetal akinesia deformation sequence ORPHA:994
- Anonychia-microcephaly syndrome ORPHA:1094
- Anophthalmia plus syndrome ORPHA:1104
- Burn-McKeown syndrome ORPHA:1200
- Barber-Say syndrome ORPHA:1231
- Beemer-Ertbruggen syndrome ORPHA:1237
- Bencze syndrome ORPHA:1241
- Maxillonasal dysplasia ORPHA:1248
- Ascher syndrome ORPHA:1253
- Brachytelephalangy-dysmorphism-Kallmann syndrome ORPHA:1295
- Branchio-oculo-facial syndrome ORPHA:1297
- Camptodactyly syndrome, Guadalajara type 2 ORPHA:1326
- Camptodactyly syndrome, Guadalajara type 1 ORPHA:1327
- Pentalogy of Cantrell ORPHA:1335
- Heart defect-tongue hamartoma-polysyndactyly syndrome ORPHA:1338
- Heart-hand syndrome type 3 ORPHA:1342
- Heart-hand syndrome type 2 ORPHA:1350
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome ORPHA:1352
- Cataract-aberrant oral frenula-growth delay syndrome ORPHA:1373
- Night blindness-skeletal anomalies-dysmorphism syndrome ORPHA:1390
- CODAS syndrome ORPHA:1458
- Lethal congenital contracture syndrome type 1 ORPHA:1486
- Vici syndrome ORPHA:1493
- SPECC1L-related hypertelorism syndrome ORPHA:1519
- Craniofacial-deafness-hand syndrome ORPHA:1529
- Cryptomicrotia-brachydactyly-excess fingertip arch syndrome ORPHA:1547
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome ORPHA:1555
- Dahlberg-Borer-Newcomer syndrome ORPHA:1563
- Autosomal recessive faciodigitogenital syndrome ORPHA:1974
- Femoral-facial syndrome ORPHA:1988
- Cleft lip-retinopathy syndrome ORPHA:1995
- Blepharo-cheilo-odontic syndrome ORPHA:1997
- Cleft lip/palate-intestinal malrotation-cardiopathy syndrome ORPHA:2001
- Alar cartilages hypoplasia-coloboma-telecanthus syndrome ORPHA:2007
- Cleft palate-lateral synechia syndrome ORPHA:2016
- Gingival fibromatosis-facial dysmorphism syndrome ORPHA:2025
- Scalp-ear-nipple syndrome ORPHA:2036
- Cole-Carpenter syndrome ORPHA:2050
- Frontofacionasal dysplasia ORPHA:1791
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome ORPHA:2057
- Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome ORPHA:2064
- Genitopalatocardiac syndrome ORPHA:2075
- Multinodular goiter-cystic kidney-polydactyly syndrome ORPHA:2091
- Gordon syndrome ORPHA:376
- Gorlin-Chaudhry-Moss syndrome ORPHA:2095
- Short stature-craniofacial anomalies-genital hypoplasia syndrome ORPHA:2994
- Diaphragmatic defect-limb deficiency-skull defect syndrome ORPHA:2141
- Hirschsprung disease-type D brachydactyly syndrome ORPHA:2150
- Hirschsprung disease-deafness-polydactyly syndrome ORPHA:2155
- Holzgreve syndrome ORPHA:2167
- Hydrocephaly-tall stature-joint laxity syndrome ORPHA:2181
- Hypertelorism-hypospadias-polysyndactyly syndrome ORPHA:2211
- Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome ORPHA:2252
- Fibulo-ulnar hypoplasia-renal anomalies syndrome ORPHA:2256
- CHILD syndrome ORPHA:139
- Ichthyosis-oral and digital anomalies syndrome ORPHA:2272
- Juberg-Hayward syndrome ORPHA:2319
- Schilbach-Rott syndrome ORPHA:2353
- Lacrimoauriculodentodigital syndrome ORPHA:2363
- Split-foot malformation-mesoaxial polydactyly syndrome ORPHA:488232
- Port-wine nevi-mega cisterna magna-hydrocephalus syndrome ORPHA:2703
- Oculotrichoanal syndrome ORPHA:2717
- Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome ORPHA:496693
- Camptodactyly-joint contractures-facial skeletal defects syndrome ORPHA:1323
- Oculo-auriculo-vertebral spectrum ORPHA:141132
- Dysmorphism-pectus carinatum-joint laxity syndrome ORPHA:2104
- Pectus excavatum-macrocephaly-dysplastic nails syndrome ORPHA:2835
- Flat face-microstomia-ear anomaly syndrome ORPHA:1968
- Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome ORPHA:1969
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome ORPHA:397623
- External auditory canal atresia-vertical talus-hypertelorism syndrome ORPHA:3023
- Otoonychoperoneal syndrome ORPHA:2793
- EVEN-plus syndrome ORPHA:496751
- Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome ORPHA:508476
- Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome ORPHA:685067
- Wormian bones-micrognathia-abnormal dentition-progeroid syndrome ORPHA:659873
- Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome ORPHA:688581
- Greig cephalopolysyndactyly-contiguous gene syndrome ORPHA:658805
- Cardiac-urogenital syndrome ORPHA:647811
- Structural heart defects-renal anomalies syndrome ORPHA:689822
- B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome ORPHA:567502
- Congenital vertebral-cardiac-renal anomalies syndrome ORPHA:521438
- Subaortic stenosis-short stature syndrome ORPHA:3191
- Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome ORPHA:643503
- Congenital limb malformation ORPHA:68378
- Syndrome with limb malformations as a major feature ORPHA:109009
- Camptodactyly-taurinuria syndrome ORPHA:1325
- Emery-Nelson syndrome ORPHA:1927
- Thumb deformity-alopecia-pigmentation anomaly syndrome ORPHA:2251
- Extensor tendons of finger anomalies ORPHA:3294
- Dysostosis with brachydactyly ORPHA:69028
- Dysostosis with brachydactyly without extraskeletal manifestations ORPHA:498451
- Symbrachydactyly of hands and feet ORPHA:1570
- Preaxial digit brachydactyly-webbed fingers ORPHA:633211
- Brachydactyly type A2 ORPHA:93396
- Brachydactyly type A4 ORPHA:93394
- Brachydactyly type A6 ORPHA:93382
- Brachydactyly type A7 ORPHA:93397
- Sugarman brachydactyly ORPHA:498602
- Mononen-Karnes-Senac syndrome ORPHA:2565
- Familial digital arthropathy-brachydactyly ORPHA:85169
- Brachydactyly-elbow wrist dysplasia syndrome ORPHA:1275
- Brachydactyly type A1 ORPHA:93388
- Brachydactyly type B ORPHA:93383
- Brachydactyly type C ORPHA:93384
- Brachydactyly type E ORPHA:93387
- Cooks syndrome ORPHA:1487
- Camptobrachydactyly ORPHA:1319
- Dysostosis with brachydactyly with extraskeletal manifestations ORPHA:498454
- Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies ORPHA:589608
- Brachydactyly-short stature-retinitis pigmentosa syndrome ORPHA:166035
- Mammary-digital-nail syndrome ORPHA:238744
- 2q37 microdeletion syndrome ORPHA:1001
- Hyperphosphatasia-intellectual disability syndrome ORPHA:247262
- Brachydactyly-arterial hypertension syndrome ORPHA:1276
- Temtamy preaxial brachydactyly syndrome ORPHA:363417
- Coffin-Siris syndrome ORPHA:1465
- Microcephaly-brachydactyly-kyphoscoliosis syndrome ORPHA:3433
- Thumb stiffness-brachydactyly-intellectual disability syndrome ORPHA:1078
- Brachydactyly-preaxial hallux varus syndrome ORPHA:1278
- Acrodysplasia scoliosis ORPHA:2956
- Brachymorphism-onychodysplasia-dysphalangism syndrome ORPHA:1292
- Skeletal dysplasia-epilepsy-short stature syndrome ORPHA:1858
- Brachydactyly-long thumb syndrome ORPHA:2946
- Ulnar/fibula ray defect-brachydactyly syndrome ORPHA:52056
- Feingold syndrome ORPHA:1305
- Hand-foot-genital syndrome ORPHA:2438
- Brachytelephalangy-dysmorphism-Kallmann syndrome ORPHA:1295
- Poland syndrome ORPHA:2911
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- Adams-Oliver syndrome ORPHA:974
- Syndrome with synostosis or other joint formation defect ORPHA:93459
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
- Banki syndrome ORPHA:1228
- Brachydactyly-elbow wrist dysplasia syndrome ORPHA:1275
- Tarsal-carpal coalition syndrome ORPHA:1412
- OSLAM syndrome ORPHA:2760
- Leri pleonosteosis ORPHA:2900
- Multiple synostoses syndrome ORPHA:3237
- Symphalangism with multiple anomalies of hands and feet ORPHA:3246
- Proximal symphalangism ORPHA:3250
- Radioulnar synostosis-microcephaly-scoliosis syndrome ORPHA:3268
- Radioulnar synostosis-developmental delay-hypotonia syndrome ORPHA:3270
- Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome ORPHA:71289
- WT limb-blood syndrome ORPHA:3466
- Arthrogryposis syndrome ORPHA:109007
- Distal arthrogryposis ORPHA:97120
- Arthrogryposis-ectodermal dysplasia syndrome ORPHA:3200
- Congenital limbs-face contractures-hypotonia-developmental delay syndrome ORPHA:562528
- Autosomal dominant multiple pterygium syndrome ORPHA:65743
- Pelvic dysplasia-arthrogryposis of lower limbs syndrome ORPHA:2840
- Distal arthrogryposis type 1 ORPHA:1146
- Sheldon-Hall syndrome ORPHA:1147
- Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome ORPHA:1154
- Freeman-Sheldon syndrome ORPHA:2053
- Arthrogryposis-like hand anomaly-sensorineural deafness syndrome ORPHA:1144
- Congenital contractural arachnodactyly ORPHA:115
- Gordon syndrome ORPHA:376
- Trismus-pseudocamptodactyly syndrome ORPHA:3377
- Musculocontractural Ehlers-Danlos syndrome ORPHA:2953
- Arthrogryposis-severe scoliosis syndrome ORPHA:65720
- Distal arthrogryposis type 10 ORPHA:251515
- Distal arthrogryposis type 5D ORPHA:329457
- Autism spectrum disorder-epilepsy-arthrogryposis syndrome ORPHA:370943
- Multiple pterygium syndrome ORPHA:294060
- Autosomal recessive multiple pterygium syndrome ORPHA:2990
- Lethal multiple pterygium syndrome ORPHA:33108
- Autosomal dominant multiple pterygium syndrome ORPHA:65743
- X-linked lethal multiple pterygium syndrome ORPHA:79447
- Popliteal pterygium syndrome ORPHA:294963
- Lethal congenital contracture syndrome ORPHA:294965
- Lethal congenital contracture syndrome type 1 ORPHA:1486
- Lethal congenital contracture syndrome type 2 ORPHA:137776
- Lethal congenital contracture syndrome type 3 ORPHA:137783
- German syndrome ORPHA:2077
- Congenital amyoplasia ORPHA:488586
- Arthrogryposis multiplex congenita ORPHA:1037
- Microphthalmia-microtia-fetal akinesia syndrome ORPHA:2547
- Neurogenic arthrogryposis multiplex congenita ORPHA:1143
- Infantile-onset X-linked spinal muscular atrophy ORPHA:1145
- Kuskokwim syndrome ORPHA:1149
- Arthrogryposis multiplex congenita-whistling face syndrome ORPHA:1150
- Multiple pterygium-malignant hyperthermia syndrome ORPHA:2215
- Marden-Walker syndrome ORPHA:2461
- Arthrogryposis-renal dysfunction-cholestasis syndrome ORPHA:2697
- Adducted thumbs-arthrogryposis syndrome, Christian type ORPHA:2952
- Van den Ende-Gupta syndrome ORPHA:2460
- Wieacker-Wolff syndrome ORPHA:3454
- Arthrogryposis-hyperkeratosis syndrome, lethal form ORPHA:1485
- Hypomyelination neuropathy-arthrogryposis syndrome ORPHA:2680
- Arthrogryposis-anterior horn cell disease syndrome ORPHA:53696
- Autosomal recessive myogenic arthrogryposis multiplex congenita ORPHA:319332
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome ORPHA:439897
- Congenital lethal myopathy, Compton-North type ORPHA:210163
- Fetal akinesia deformation sequence ORPHA:994
- Pontocerebellar hypoplasia type 12 ORPHA:611256
- MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome ORPHA:498693
- KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome ORPHA:610569
- Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome ORPHA:664923
- Prenatal-onset spinal muscular atrophy with congenital bone fractures ORPHA:486811
- Familial clubfoot with or without associated lower limb anomalies ORPHA:199315
- Familial clubfoot due to 17q23.1q23.2 microduplication ORPHA:238578
- Familial clubfoot due to 5q31 microdeletion ORPHA:293144
- Familial clubfoot due to PITX1 point mutation ORPHA:293150
- Heart-hand syndrome ORPHA:228184
- Holt-Oram syndrome ORPHA:392
- Heart-hand syndrome type 3 ORPHA:1342
- Heart-hand syndrome type 2 ORPHA:1350
- Brachydactyly-long thumb syndrome ORPHA:2946
- Heart-hand syndrome, Slovenian type ORPHA:168796
- Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome ORPHA:228190
- Carney complex-trismus-pseudocamptodactyly syndrome ORPHA:319340
- Syndrome with limb reduction defects ORPHA:294955
- Split-foot malformation-mesoaxial polydactyly syndrome ORPHA:488232
- Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome ORPHA:496693
- Heart defects-limb shortening syndrome ORPHA:1354
- Thrombocytopenia-absent radius syndrome ORPHA:3320
- Fanconi anemia ORPHA:84
- Roberts syndrome ORPHA:3103
- Adams-Oliver syndrome ORPHA:974
- ADULT syndrome ORPHA:978
- Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome ORPHA:988
- Hypoglossia-hypodactyly syndrome ORPHA:989
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ORPHA:1071
- Ankyloblepharon filiforme adnatum-cleft palate syndrome ORPHA:1072
- Ankyloblepharon filiforme adnatum-imperforate anus syndrome ORPHA:1074
- Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome ORPHA:1112
- Aphalangy-syndactyly-microcephaly syndrome ORPHA:1113
- Lethal faciocardiomelic dysplasia ORPHA:1972
- Gollop-Wolfgang complex ORPHA:1986
- Femoral-facial syndrome ORPHA:1988
- Splenogonadal fusion-limb defects-micrognathia syndrome ORPHA:2063
- Ulna hypoplasia-intellectual disability syndrome ORPHA:2249
- IVIC syndrome ORPHA:2307
- Absence deformity of leg-cataract syndrome ORPHA:2310
- Karsch-Neugebauer syndrome ORPHA:2329
- Holt-Oram syndrome ORPHA:392
- Tetramelic monodactyly ORPHA:2564
- Fibular aplasia-complex brachydactyly syndrome ORPHA:2639
- Postaxial tetramelic oligodactyly ORPHA:2730
- Pelvis-shoulder dysplasia ORPHA:2839
- Fuhrmann syndrome ORPHA:2854
- Phocomelia, Schinzel type ORPHA:2879
- Radio-renal syndrome ORPHA:3015
- Absent radius-anogenital anomalies syndrome ORPHA:3016
- RAPADILINO syndrome ORPHA:3021
- Ulnar-mammary syndrome ORPHA:3138
- Tetraamelia-multiple malformations syndrome ORPHA:3301
- Thalidomide embryopathy ORPHA:3312
- Absent tibia-polydactyly-arachnoid cyst syndrome ORPHA:3328
- Tibial aplasia-ectrodactyly syndrome ORPHA:3329
- Humerus trochlea aplasia ORPHA:3383
- Split hand-split foot-deafness syndrome ORPHA:71271
- Okihiro syndrome ORPHA:93293
- Okihiro syndrome due to 20q13 microdeletion ORPHA:261638
- Okihiro syndrome due to a point mutation ORPHA:261647
- Pelviscapular dysplasia ORPHA:93333
- Mammary-digital-nail syndrome ORPHA:238744
- Thrombocythemia with distal limb defects ORPHA:329319
- Cornelia de Lange syndrome ORPHA:199
- Intellectual disability-spasticity-ectrodactyly syndrome ORPHA:1891
- FATCO syndrome ORPHA:2492
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome ORPHA:508542
- Combined immunodeficiency with facio-oculo-skeletal anomalies ORPHA:221139
- Camptodactyly syndrome, Guadalajara type 2 ORPHA:1326
- Dysostosis with combined reduction defects of upper and lower limbs ORPHA:294957
- Fibular aplasia-ectrodactyly syndrome ORPHA:1118
- Radial deficiency-tibial hypoplasia syndrome ORPHA:1121
- Ulnar hypoplasia-split foot syndrome ORPHA:1122
- Gollop-Wolfgang complex ORPHA:1986
- Femur-fibula-ulna complex ORPHA:2019
- Tibial aplasia-ectrodactyly syndrome ORPHA:3329
- Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy ORPHA:294959
- Greig cephalopolysyndactyly-contiguous gene syndrome ORPHA:658805
- B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome ORPHA:567502
- Acropectoral syndrome ORPHA:85203
- Brachydactyly-syndactyly, Zhao type ORPHA:93409
- Syndactyly-telecanthus-anogenital and renal malformations syndrome ORPHA:140952
- Orofaciodigital syndrome ORPHA:140997
- Orofaciodigital syndrome type 1 ORPHA:2750
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Orofaciodigital syndrome type 8 ORPHA:2755
- Orofaciodigital syndrome type 5 ORPHA:2919
- Orofaciodigital syndrome type 11 ORPHA:141000
- Orofaciodigital syndrome type 9 ORPHA:141007
- Orofaciodigital syndrome type 14 ORPHA:434179
- Oral-facial-digital syndrome with short stature and brachymesophalangy ORPHA:508501
- Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome ORPHA:357332
- Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome ORPHA:369979
- Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ORPHA:420584
- Townes-Brocks syndrome ORPHA:857
- Meckel syndrome ORPHA:564
- Acrocallosal syndrome ORPHA:36
- Acropectorovertebral dysplasia ORPHA:957
- Scalp defects-postaxial polydactyly syndrome ORPHA:1003
- Aphalangy-syndactyly-microcephaly syndrome ORPHA:1113
- Catel-Manzke syndrome ORPHA:1388
- Craniosynostosis, Philadelphia type ORPHA:1527
- Dandy-Walker malformation-postaxial polydactyly syndrome ORPHA:1566
- Fibular dimelia-diplopodia syndrome ORPHA:1757
- Ectrodactyly-polydactyly syndrome ORPHA:1892
- Gollop-Wolfgang complex ORPHA:1986
- Greig cephalopolysyndactyly syndrome ORPHA:380
- Hallux varus-preaxial polysyndactyly syndrome ORPHA:2110
- Pallister-Hall syndrome ORPHA:672
- Lacrimoauriculodentodigital syndrome ORPHA:2363
- Laurin-Sandrow syndrome ORPHA:2378
- Fuhrmann syndrome ORPHA:2854
- Polydactyly-myopia syndrome ORPHA:2917
- Oliver syndrome ORPHA:2920
- Crossed polysyndactyly ORPHA:2935
- Triphalangeal thumbs-brachyectrodactyly syndrome ORPHA:2947
- Guttmacher syndrome ORPHA:2957
- Mirror polydactyly-vertebral segmentation-limbs defects syndrome ORPHA:3004
- Sillence syndrome ORPHA:3168
- Eyebrow duplication-syndactyly syndrome ORPHA:3172
- Symphalangism with multiple anomalies of hands and feet ORPHA:3246
- Filippi syndrome ORPHA:3255
- Cenani-Lenz syndrome ORPHA:3258
- Absent tibia-polydactyly-arachnoid cyst syndrome ORPHA:3328
- Syndactyly-polydactyly-ear lobe syndrome ORPHA:3259
- Smith-Lemli-Opitz syndrome ORPHA:818
- Split hand-split foot-deafness syndrome ORPHA:71271
- FATCO syndrome ORPHA:2492
- Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome ORPHA:476119
- Split-foot malformation-mesoaxial polydactyly syndrome ORPHA:488232
- Caudal regression-sirenomelia spectrum ORPHA:444941
- Fetal encasement syndrome ORPHA:465824
- TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome ORPHA:592570
- Non-syndromic limb malformation ORPHA:109011
- Isolated patella aplasia/hypoplasia ORPHA:86789
- Non-syndromic limb reduction defect ORPHA:93457
- Non-syndromic longitudinal limb defect ORPHA:498457
- Non-syndromic hemimelia ORPHA:2130
- Isolated ulnar hemimelia ORPHA:93320
- Isolated radial hemimelia ORPHA:93321
- Isolated tibial hemimelia ORPHA:93322
- Isolated fibular hemimelia ORPHA:93323
- Isolated hypoplasia of thumb ORPHA:294988
- Non-syndromic terminal transverse limb defect ORPHA:498461
- Non-syndromic amelia ORPHA:294925
- Isolated amelia of upper limb ORPHA:294967
- Isolated amelia of lower limb ORPHA:294969
- Isolated tetra-amelia ORPHA:294971
- Isolated absence/hypoplasia of fingers excluding thumb, unilateral ORPHA:973
- Non-syndromic complete hemimelia ORPHA:498491
- Isolated absence of both lower leg and foot ORPHA:294981
- Isolated absence of both forearm and hand ORPHA:294979
- Isolated acheiria ORPHA:294983
- Isolated apodia ORPHA:294986
- Isolated acheiropodia ORPHA:931
- Non-syndromic intercalary limb defects ORPHA:294927
- Isolated humeral agenesis/hypoplasia ORPHA:294973
- Isolated absence of upper arm and forearm with hand present ORPHA:294975
- Isolated absence of thigh and lower leg with foot present ORPHA:294977
- Isolated femoral agenesis/hypoplasia ORPHA:1987
- Isolated proximal femoral focal deficiency ORPHA:633228
- Isolated congenital femoral bifurcation ORPHA:667589
- Non-syndromic polydactyly, syndactyly and/or hyperphalangy ORPHA:93458
- Non-syndromic polydactyly ORPHA:2913
- Non-syndromic preaxial polydactyly ORPHA:498464
- Polydactyly of a triphalangeal thumb ORPHA:93336
- Polydactyly of an index finger ORPHA:93337
- Polysyndactyly ORPHA:93338
- Polydactyly of a biphalangeal thumb and/or hallux ORPHA:93339
- Non-syndromic postaxial polydactyly ORPHA:498467
- Non-syndromic complex polydactyly ORPHA:498470
- Non-syndromic syndactyly ORPHA:90025
- Syndactyly type 8 ORPHA:2498
- Syndactyly type 1 ORPHA:93402
- Zygodactyly type 1 ORPHA:295187
- Zygodactyly type 2 ORPHA:295189
- Zygodactyly type 3 ORPHA:295191
- Zygodactyly type 4 ORPHA:295193
- Syndactyly type 2 ORPHA:93403
- Synpolydactyly type 1 ORPHA:295195
- Synpolydactyly type 2 ORPHA:295197
- Synpolydactyly type 3 ORPHA:295199
- Syndactyly type 3 ORPHA:93404
- Syndactyly type 4 ORPHA:93405
- Syndactyly type 5 ORPHA:93406
- Mesoaxial synostotic syndactyly with phalangeal reduction ORPHA:157801
- Syndactyly type 6 ORPHA:295012
- Isolated hyperphalangy ORPHA:295002
- Isolated pseudoarthrosis of the limbs ORPHA:157808
- Congenital pseudoarthrosis of the tibia ORPHA:295018
- Congenital pseudoarthrosis of the femur ORPHA:295020
- Congenital pseudoarthrosis of the fibula ORPHA:295022
- Congenital pseudoarthrosis of the radius ORPHA:295024
- Congenital pseudoarthrosis of the ulna ORPHA:295026
- Congenital deformities of limbs ORPHA:294944
- Congenital vertical talus ORPHA:178382
- Congenital vertical talus, unilateral ORPHA:295201
- Congenital vertical talus, bilateral ORPHA:295203
- Congenital deformities of fingers ORPHA:294947
- Non-syndromic joint formation defects ORPHA:294949
- Isolated distal symphalangism ORPHA:3248
- Isolated humero-radial synostosis ORPHA:3265
- Isolated humero-radio-ulnar synostosis ORPHA:3266
- Isolated radio-ulnar synostosis ORPHA:3269
- Isolated humero-ulnar synostosis ORPHA:94056
- Isolated tibio-fibular synostosis ORPHA:295028
- Congenital joint dislocations ORPHA:294951
- True congenital shoulder dislocation ORPHA:295030
- Isolated congenital radial head dislocation ORPHA:295032
- Congenital elbow dislocation, unilateral ORPHA:295225
- Congenital elbow dislocation, bilateral ORPHA:295227
- Congenital knee dislocation ORPHA:295034
- Congenital patella dislocation ORPHA:295036
- Non-syndromic limb overgrowth ORPHA:294953
- Macrodactyly of fingers ORPHA:295044
- Macrodactyly of toes ORPHA:295047
- Upper limb hypertrophy ORPHA:295049
- Lower limb hypertrophy ORPHA:295051
- Bipartite talus ORPHA:364198
- Amniotic band syndrome ORPHA:295000
- Rare vascular anomaly ORPHA:68419
- Rare vascular malformation of major vessels ORPHA:458844
- Congenital anomaly of the great arteries ORPHA:98724
- Aortic arch defects ORPHA:1132
- Encircling double aortic arch ORPHA:99075
- Persistent fifth aortic arch ORPHA:99076
- Kommerell diverticulum ORPHA:99077
- Neuhauser anomaly ORPHA:99078
- Cervical aortic arch ORPHA:99079
- Right aortic arch ORPHA:99081
- Dysphagia lusoria ORPHA:99082
- Scimitar syndrome ORPHA:185
- Arterial duct anomaly ORPHA:95485
- Premature closure of the arterial duct ORPHA:95486
- Congenital patent ductus arteriosus aneurysm ORPHA:99072
- Familial patent arterial duct ORPHA:466729
- Aortic malformation ORPHA:98718
- Supravalvular aortic stenosis ORPHA:3193
- Aorta coarctation ORPHA:1457
- Aortic arch interruption ORPHA:2299
- Fixed subaortic stenosis ORPHA:3092
- Discrete fixed membranous subaortic stenosis ORPHA:99051
- Discrete fibromuscular subaortic stenosis ORPHA:99052
- Tunnel subaortic stenosis ORPHA:99053
- Congenital aortic valve stenosis ORPHA:3093
- Familial bicuspid aortic valve ORPHA:402075
- Middle aortic syndrome ORPHA:1456
- Quadricuspid aortic valve ORPHA:542568
- Pulmonary artery or pulmonary branch anomaly ORPHA:98719
- Pulmonary atresia-intact ventricular septum syndrome ORPHA:1208
- Pulmonary valve agenesis ORPHA:982
- Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome ORPHA:99048
- Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome ORPHA:101206
- Absence of the pulmonary artery ORPHA:980
- Congenital pulmonary valvar stenosis ORPHA:3189
- Subpulmonary stenosis ORPHA:3190
- Supravalvular pulmonary stenosis ORPHA:3192
- Valvular pulmonary stenosis ORPHA:99054
- Idiopathic pulmonary artery dilatation ORPHA:1676
- Pulmonary artery hypoplasia ORPHA:99083
- Peripheral pulmonary stenosis ORPHA:99084
- Ascending aorta anomaly ORPHA:98725
- Congenital anomaly of the great veins ORPHA:363189
- Congenital systemic veins anomaly ORPHA:3091
- Congenital anomaly of superior vena cava ORPHA:95498
- Primary superior vena cava aneurysm ORPHA:652668
- Persistent left superior vena cava connecting through coronary sinus to left-sided atrium ORPHA:99109
- Right superior vena cava connecting to left-sided atrium ORPHA:99110
- Persistent left superior vena cava connecting to the roof of left-sided atrium ORPHA:99111
- Absence of innominate vein ORPHA:99112
- Subaortic course of innominate vein ORPHA:99113
- Agenesis of the superior vena cava ORPHA:99114
- Congenital anomaly of the inferior vena cava ORPHA:95499
- Primary inferior vena cava aneurysm ORPHA:652678
- Right inferior vena cava connecting to left-sided atrium ORPHA:99119
- Persistent eustachian valve ORPHA:99120
- Azygos continuation of the inferior vena cava ORPHA:99121
- Congenital stenosis of the inferior vena cava ORPHA:99122
- Inferior vena cava interruption without azygos continuation ORPHA:99123
- Congenital anomaly of the coronary sinus ORPHA:95500
- Congenital anomaly of hepatic vein ORPHA:95507
- Congenital portosystemic shunt ORPHA:480531
- Congenital pulmonary veins anomaly ORPHA:98729
- Internal carotid absence ORPHA:981
- Congenital renal artery stenosis ORPHA:97598
- Extracranial carotid artery aneurysm ORPHA:494424
- Rare combined vascular malformation ORPHA:458837
- Complex vascular malformation with associated anomalies ORPHA:211277
- CLAPO syndrome ORPHA:168984
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome ORPHA:137608
- Angioosteohypertrophic syndrome ORPHA:2346
- Angioosteohypotrophic syndrome ORPHA:75508
- Bannayan-Riley-Ruvalcaba syndrome ORPHA:109
- Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome ORPHA:86914
- Proteus syndrome ORPHA:744
- CLOVES syndrome ORPHA:140944
- Maffucci syndrome ORPHA:163634
- Inverse Klippel-Trénaunay syndrome ORPHA:329324
- Rare vascular tumor ORPHA:211237
- Malignant vascular tumor ORPHA:673466
- Benign vascular tumor ORPHA:673470
- Hereditary neurocutaneous malformation ORPHA:1062
- Tufted angioma ORPHA:1063
- Retinal capillary malformation ORPHA:71213
- Spindle cell hemangioma ORPHA:210584
- Congenital hemangioma ORPHA:458775
- Partially involuting congenital hemangioma ORPHA:458785
- Rapidly involuting congenital hemangioma ORPHA:141184
- Non-involuting congenital hemangioma ORPHA:141179
- Anastomosing haemangioma ORPHA:675359
- Acquired elastotic haemangioma ORPHA:675597
- Hobnail hemangioma ORPHA:675362
- Microvenular haemangioma ORPHA:675369
- Epithelioid hemangioma ORPHA:675396
- Papillary hemangioma ORPHA:673543
- Reactive angioendotheliomatosis ORPHA:673574
- Eccrine angiomatous hamartoma ORPHA:673568
- Littoral cell hemangioma of the spleen ORPHA:673538
- Intravascular papillary endothelial hyperplasia ORPHA:673525
- Rare infantile hemangioma ORPHA:210589
- Borderline vascular tumor ORPHA:673473
- Simple vascular malformation ORPHA:211243
- Rare capillary malformation ORPHA:211247
- Angioma serpiginosum ORPHA:95429
- Familial multiple nevi flammei ORPHA:624
- Verrucous hemangioma ORPHA:464318
- Rare capillary malformation with associated anomalies ORPHA:458830
- Port-wine nevi-mega cisterna magna-hydrocephalus syndrome ORPHA:2703
- Megalencephaly-capillary malformation-polymicrogyria syndrome ORPHA:60040
- Sturge-Weber syndrome ORPHA:3205
- Microcephaly-capillary malformation syndrome ORPHA:294016
- Hemihyperplasia-multiple lipomatosis syndrome ORPHA:276280
- Hereditary hemorrhagic telangiectasia ORPHA:774
- Cutis marmorata telangiectatica congenita ORPHA:1556
- Capillary malformation-arteriovenous malformation ORPHA:137667
- Rare venous malformation ORPHA:211252
- Splenic venous malformation ORPHA:688523
- Familial cerebral cavernous malformation ORPHA:221061
- Blue rubber bleb nevus ORPHA:1059
- Mucocutaneous venous malformations ORPHA:2451
- Glomuvenous malformation ORPHA:83454
- Bockenheimer syndrome ORPHA:217008
- Primary intraosseous venous malformation ORPHA:140436
- Rare lymphatic system anomaly ORPHA:211255
- Primary lymphedema ORPHA:77240
- Primary lymphedema without systemic or visceral involvement ORPHA:568041
- Congenital primary lymphedema without systemic or visceral involvement ORPHA:2416
- Amniotic band syndrome ORPHA:295000
- Milroy disease ORPHA:79452
- Congenital primary lymphedema of Gordon ORPHA:569821
- Microcephaly-lymphedema-chorioretinopathy syndrome ORPHA:2526
- German syndrome ORPHA:2077
- Late-onset primary lymphedema without systemic or visceral involvement ORPHA:289825
- Primary lymphedema with systemic or visceral involvement ORPHA:568044
- Dahlberg-Borer-Newcomer syndrome ORPHA:1563
- Aplasia cutis congenita-intestinal lymphangiectasia syndrome ORPHA:1116
- Hennekam syndrome ORPHA:2136
- EPHB4-related lymphatic-related hydrops fetalis ORPHA:568065
- PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis ORPHA:568062
- Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome ORPHA:568056
- Lymphedema with yellow nails ORPHA:662
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ORPHA:69735
- Lymphedema-atrial septal defects-facial changes syndrome ORPHA:86915
- Disorder with multisystemic involvement and primary lymphedema ORPHA:568047
- Takenouchi-Kosaki syndrome ORPHA:487796
- Fabry disease ORPHA:324
- Noonan syndrome ORPHA:648
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- Prolidase deficiency ORPHA:742
- Cardiofaciocutaneous syndrome ORPHA:1340
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome ORPHA:1655
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ORPHA:69088
- Oculodentodigital dysplasia ORPHA:2710
- PEHO-like syndrome ORPHA:99807
- PEHO syndrome ORPHA:2836
- Phelan-McDermid syndrome ORPHA:48652
- Phelan-McDermid syndrome due to SHANK3 mutation ORPHA:662172
- Phelan-McDermid syndrome due to 22q13.3 deletion ORPHA:662169
- Tuberous sclerosis complex ORPHA:805
- Rare lymphatic malformation ORPHA:2415
- Common cystic lymphatic malformation ORPHA:458833
- Macrocystic lymphatic malformation ORPHA:79489
- Microcystic lymphatic malformation ORPHA:79490
- Mixed cystic lymphatic malformation ORPHA:458792
- Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome ORPHA:464321
- Diffuse lymphatic malformation ORPHA:141209
- Kaposiform lymphangiomatosis ORPHA:464329
- Gorham-Stout disease ORPHA:73
- Lymphedema-posterior choanal atresia syndrome ORPHA:99141
- Rare arteriovenous malformation ORPHA:211266
- Cerebral proliferative angiopathy ORPHA:692271
- Pulmonary arteriovenous malformation ORPHA:2038
- Cerebral arteriovenous malformation ORPHA:46724
- Vein of Galen aneurysmal malformation ORPHA:1053
- Dural sinus malformation ORPHA:97339
- Spinal arteriovenous metameric syndrome ORPHA:53721
- Foix-Alajouanine syndrome ORPHA:79093
- Cerebrofacial arteriovenous metameric syndrome ORPHA:141189
- Cerebrofacial arteriovenous metameric syndrome type 2 ORPHA:53719
- Cerebrofacial arteriovenous metameric syndrome type 1 ORPHA:141194
- Cerebrofacial arteriovenous metameric syndrome type 3 ORPHA:141199
- Facial arteriovenous malformation ORPHA:156230
- Congenital arteriovenous fistula ORPHA:98731
- Rare teratologic disease ORPHA:52662
- Infectious embryofetopathy ORPHA:232035
- Fetal parvovirus syndrome ORPHA:295
- Congenital rubella syndrome ORPHA:290
- Congenital toxoplasmosis ORPHA:858
- Congenital varicella syndrome ORPHA:291
- Congenital herpes simplex virus infection ORPHA:293
- Fetal cytomegalovirus syndrome ORPHA:294
- Congenital enterovirus infection ORPHA:292
- Congenital Epstein-Barr virus infection ORPHA:70596
- Congenital syphilis ORPHA:499009
- Toxic or drug-related embryofetopathy ORPHA:251529
- Propylthiouracil embryofetopathy ORPHA:485358
- Fetal alcohol syndrome ORPHA:1915
- Aminopterin/methotrexate embryofetopathy ORPHA:1908
- Indomethacin embryofetopathy ORPHA:1909
- Fetal iodine syndrome ORPHA:1910
- Cocaine embryofetopathy ORPHA:1911
- Fetal minoxidil syndrome ORPHA:1918
- Vitamin K antagonist embryofetopathy ORPHA:1914
- Diethylstilbestrol syndrome ORPHA:1916
- Fetal methylmercury syndrome ORPHA:1917
- Toluene embryopathy ORPHA:1920
- Methimazole embryofetopathy ORPHA:1923
- Isotretinoin syndrome ORPHA:2305
- Thalidomide embryopathy ORPHA:3312
- Acitretin/etretinate embryopathy ORPHA:40366
- Mycophenolate mofetil embryopathy ORPHA:268249
- Fetal anticonvulsant syndrome ORPHA:370068
- Maternal disease-related embryofetopathy ORPHA:251535
- Urogenital tract malformation ORPHA:83001
- Non-syndromic urogenital tract malformation ORPHA:165704
- Non-syndromic urogenital tract malformation of female ORPHA:182117
- Non-syndromic uterovaginal malformation ORPHA:180065
- Diethylstilbestrol syndrome ORPHA:1916
- Müllerian aplasia ORPHA:73217
- Partial bilateral aplasia of the Müllerian ducts ORPHA:180068
- Mayer-Rokitansky-Küster-Hauser syndrome ORPHA:3109
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 ORPHA:2578
- Mayer-Rokitansky-Küster-Hauser syndrome type 1 ORPHA:247775
- Müllerian aplasia and hyperandrogenism ORPHA:247768
- Unilateral aplasia of the Müllerian ducts ORPHA:180071
- Septate uterus ORPHA:180122
- Bicornuate uterus ORPHA:180134
- Didelphys uterus ORPHA:180086
- Bicervical bicornuate uterus and blind hemivagina ORPHA:180106
- Bicervical bicornuate uterus with patent cervix and vagina ORPHA:180111
- Unicervical bicornuate uterus ORPHA:180114
- Uterine hypoplasia ORPHA:180139
- Absence of uterine body ORPHA:180142
- Uterine cervical aplasia and agenesis ORPHA:180145
- Rare vaginal malformation ORPHA:180151
- Vaginal atresia ORPHA:65681
- Isolated partial vaginal agenesis ORPHA:96269
- Septate vagina ORPHA:180154
- Isolated female hypospadias ORPHA:603515
- Isolated persistent urogenital sinus ORPHA:647794
- Non-syndromic urogenital tract malformation of male ORPHA:182121
- Congenital bilateral absence of vas deferens ORPHA:48
- Penoscrotal transposition ORPHA:2842
- Penile agenesis ORPHA:49
- Diphallia ORPHA:227
- Non-syndromic posterior hypospadias ORPHA:95706
- Idiopathic isolated micropenis ORPHA:95707
- Congenital agenesis of the scrotum ORPHA:495879
- Non-syndromic urogenital tract malformation of male and female ORPHA:182124
- Exstrophy-epispadias complex ORPHA:322
- Duplication of urethra ORPHA:237
- Congenital primary megaureter ORPHA:617
- Primary megaureter, adult-onset form ORPHA:238642
- Congenital primary megaureter, obstructed form ORPHA:238646
- Congenital primary megaureter, refluxing form ORPHA:238650
- Congenital primary megaureter, nonrefluxing and unobstructed form ORPHA:238654
- Congenital primary megaureter, refluxing and obstructed form ORPHA:544578
- Familial vesicoureteral reflux ORPHA:289365
- Fetal lower urinary tract obstruction ORPHA:435365
- Prune belly syndrome ORPHA:2970
- Atresia of urethra ORPHA:105
- Posterior urethral valve ORPHA:93110
- Anterior urethral valve ORPHA:435372
- Congenital urachal anomaly ORPHA:435743
- Syndromic urogenital tract malformation ORPHA:165707
- SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome ORPHA:597743
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- CHARGE syndrome ORPHA:138
- Aarskog-Scott syndrome ORPHA:915
- Lethal hemolytic anemia-genital anomalies syndrome ORPHA:1046
- Caudal regression-sirenomelia spectrum ORPHA:444941
- 48,XXYY syndrome ORPHA:10
- Spina bifida-hypospadias syndrome ORPHA:3176
- Abruzzo-Erickson syndrome ORPHA:921
- Branchioskeletogenital syndrome ORPHA:1299
- Autosomal recessive faciodigitogenital syndrome ORPHA:1974
- Hypertelorism-hypospadias-polysyndactyly syndrome ORPHA:2211
- Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome ORPHA:2252
- Hypospadias-intellectual disability, Goldblatt type syndrome ORPHA:2261
- Schilbach-Rott syndrome ORPHA:2353
- Czeizel-Losonci syndrome ORPHA:2437
- Lower limb malformation-hypospadias syndrome ORPHA:2487
- Müllerian duct anomalies-limb anomalies syndrome ORPHA:2491
- Nephrosis-deafness-urinary tract-digital malformations syndrome ORPHA:2669
- Guttmacher syndrome ORPHA:2957
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome ORPHA:3224
- Torticollis-keloids-cryptorchidism-renal dysplasia syndrome ORPHA:3341
- Opitz GBBB syndrome ORPHA:2745
- Double uterus-hemivagina-renal agenesis syndrome ORPHA:3411
- IMAGe syndrome ORPHA:85173
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome ORPHA:1655
- 48,XXXY syndrome ORPHA:96263
- 49,XXXXY syndrome ORPHA:96264
- 48,XYYY syndrome ORPHA:99329
- 8p23.1 microdeletion syndrome ORPHA:251071
- ARX-related encephalopathy-brain malformation spectrum ORPHA:423655
- Corpus callosum agenesis-abnormal genitalia syndrome ORPHA:2508
- X-linked lissencephaly with abnormal genitalia ORPHA:452
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome ORPHA:439897
- Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome ORPHA:500135
- Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome ORPHA:495875
- B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome ORPHA:567502
- Neurooculocardiogenitourinary syndrome ORPHA:684305
- KAT6B-related multiple congenital anomalies syndrome ORPHA:597749
- Syndromic genetic deafness ORPHA:90642
- Duane retraction syndrome with congenital deafness ORPHA:529574
- Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome ORPHA:508476
- Congenital vertebral-cardiac-renal anomalies syndrome ORPHA:521438
- Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome ORPHA:521445
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome ORPHA:397623
- 1p35.2 microdeletion syndrome ORPHA:456298
- Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome ORPHA:171848
- MEDNIK syndrome ORPHA:171851
- EAST syndrome ORPHA:199343
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome ORPHA:228012
- Familial steroid-resistant nephrotic syndrome with sensorineural deafness ORPHA:280406
- Dysmorphism-conductive hearing loss-heart defect syndrome ORPHA:289553
- Hypertelorism-preauricular sinus-punctual pits-deafness syndrome ORPHA:293958
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome ORPHA:293967
- Connective tissue disorder due to lysyl hydroxylase-3 deficiency ORPHA:300284
- Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome ORPHA:300333
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome ORPHA:314404
- Chudley-McCullough syndrome ORPHA:314597
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy ORPHA:329336
- Hypotrichosis-deafness syndrome ORPHA:330029
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome ORPHA:330054
- MEGDEL syndrome ORPHA:352328
- Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome ORPHA:363649
- Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ORPHA:369939
- Congenital disorder of glycosylation with deafness as a major feature ORPHA:371212
- CHIME syndrome ORPHA:3474
- RFT1-CDG ORPHA:244310
- Temtamy preaxial brachydactyly syndrome ORPHA:363417
- Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ORPHA:397744
- Autosomal recessive distal renal tubular acidosis ORPHA:402041
- Wolfram-like syndrome ORPHA:411590
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ORPHA:436174
- PCNA-related progressive neurodegenerative photosensitivity syndrome ORPHA:438134
- Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome ORPHA:440354
- Hyperostosis cranialis interna ORPHA:443098
- Mandibulofacial dysostosis with alopecia ORPHA:443995
- Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome ORPHA:445062
- Progressive autosomal recessive ataxia-deafness syndrome ORPHA:448251
- Kearns-Sayre syndrome ORPHA:480
- MELAS ORPHA:550
- CHARGE syndrome ORPHA:138
- 22q11.2 deletion syndrome ORPHA:567
- Full NF2-related schwannomatosis ORPHA:637
- Norrie disease ORPHA:649
- Townes-Brocks syndrome ORPHA:857
- BOR syndrome ORPHA:107
- Treacher-Collins syndrome ORPHA:861
- Albinism-deafness syndrome ORPHA:998
- Ermine phenotype ORPHA:999
- Ocular albinism with late-onset sensorineural deafness ORPHA:1000
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome ORPHA:3085
- KID syndrome ORPHA:477
- Pendred syndrome ORPHA:705
- Alport syndrome ORPHA:63
- X-linked Alport syndrome ORPHA:88917
- Autosomal dominant Alport syndrome ORPHA:88918
- Autosomal recessive Alport syndrome ORPHA:88919
- X-linked Alport syndrome-diffuse leiomyomatosis ORPHA:1018
- Digenic Alport syndrome ORPHA:653722
- Cockayne syndrome ORPHA:191
- COFS syndrome ORPHA:1466
- Cockayne syndrome type 1 ORPHA:90321
- Cockayne syndrome type 2 ORPHA:90322
- Cockayne syndrome type 3 ORPHA:90324
- Usher syndrome ORPHA:886
- Usher syndrome type 3 ORPHA:231183
- Usher syndrome type 1 ORPHA:231169
- Usher syndrome type 2 ORPHA:231178
- Waardenburg syndrome ORPHA:3440
- Waardenburg syndrome type 1 ORPHA:894
- Waardenburg syndrome type 2 ORPHA:895
- Waardenburg syndrome type 3 ORPHA:896
- Wolfram syndrome ORPHA:3463
- Stickler syndrome ORPHA:828
- Stickler syndrome type 1 ORPHA:90653
- Stickler syndrome type 2 ORPHA:90654
- Autosomal recessive Stickler syndrome ORPHA:250984
- Waardenburg-Shah syndrome ORPHA:897
- Noonan syndrome with multiple lentigines ORPHA:500
- Fraser syndrome ORPHA:2052
- Mitochondrial myopathy-lactic acidosis-deafness syndrome ORPHA:2597
- Alström syndrome ORPHA:64
- Arthrogryposis-like hand anomaly-sensorineural deafness syndrome ORPHA:1144
- Lethal ataxia with deafness and optic atrophy ORPHA:1187
- Ataxia-deafness-intellectual disability syndrome ORPHA:1188
- Burn-McKeown syndrome ORPHA:1200
- Maxillonasal dysplasia ORPHA:1248
- Cataract-ataxia-deafness syndrome ORPHA:1368
- Richards-Rundle syndrome ORPHA:1399
- Xq21 microdeletion syndrome ORPHA:1435
- Corneal dystrophy-perceptive deafness syndrome ORPHA:1490
- Craniofacial-deafness-hand syndrome ORPHA:1529
- Ectodermal dysplasia-sensorineural deafness syndrome ORPHA:1883
- Cleft lip/palate-deafness-sacral lipoma syndrome ORPHA:2003
- Gingival fibromatosis-progressive deafness syndrome ORPHA:2027
- Hirschsprung disease-deafness-polydactyly syndrome ORPHA:2155
- Palmoplantar keratoderma-deafness syndrome ORPHA:2202
- Ramos-Arroyo syndrome ORPHA:1051
- Hypoparathyroidism-sensorineural deafness-renal disease syndrome ORPHA:2237
- Keratoderma hereditarium mutilans ORPHA:494
- Thickened earlobes-conductive deafness syndrome ORPHA:2405
- Lowe-Kohn-Cohen syndrome ORPHA:2408
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome ORPHA:2502
- Conductive deafness-malformed external ear syndrome ORPHA:3216
- RNF13-related severe early-onset epileptic encephalopathy ORPHA:544503
- Otopalatodigital syndrome type 2 ORPHA:90652
- Oculoskeletodental syndrome ORPHA:557003
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome ORPHA:589856
- Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome ORPHA:589442
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome ORPHA:500144
- Mitchell Syndrome ORPHA:631248
- Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ORPHA:457351
- Gemignani syndrome ORPHA:2074
- Syndromic sensorineural deafness due to combined oxidative phosphorylation defect ORPHA:457223
- Nathalie syndrome ORPHA:2663
- Otopalatodigital syndrome type 1 ORPHA:90650
- Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome ORPHA:231720
- MYH9-related syndromic thrombocytopenia ORPHA:182050
- Microcephaly-deafness-intellectual disability syndrome ORPHA:2533
- Myoclonus-cerebellar ataxia-deafness syndrome ORPHA:2589
- N syndrome ORPHA:2608
- Nephropathy-deafness-hyperparathyroidism syndrome ORPHA:2668
- Nephrosis-deafness-urinary tract-digital malformations syndrome ORPHA:2669
- Neutropenia-monocytopenia-deafness syndrome ORPHA:2690
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome ORPHA:2698
- Olivopontocerebellar atrophy-deafness syndrome ORPHA:2732
- Orofaciodigital syndrome type 1 ORPHA:2750
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Spastic paraparesis-deafness syndrome ORPHA:2815
- Spastic paraplegia-nephritis-deafness syndrome ORPHA:2820
- Renal caliceal diverticuli-deafness syndrome ORPHA:2838
- Perrault syndrome ORPHA:2855
- Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome ORPHA:2866
- Deaf blind hypopigmentation syndrome, Yemenite type ORPHA:3214
- Deafness-small bowel diverticulosis-neuropathy syndrome ORPHA:3217
- Deafness-epiphyseal dysplasia-short stature syndrome ORPHA:3218
- Fountain syndrome ORPHA:3219
- Deafness-enamel hypoplasia-nail defects syndrome ORPHA:3220
- Athabaskan brainstem dysgenesis syndrome ORPHA:69739
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome ORPHA:3224
- Hearing loss-familial salivary gland insensitivity to aldosterone syndrome ORPHA:3225
- Deafness-oligodontia syndrome ORPHA:3230
- Deafness-onychodystrophy syndrome ORPHA:3231
- Deafness-ear malformation-facial palsy syndrome ORPHA:3232
- Cochleosaccular degeneration-cataract syndrome ORPHA:3233
- Progressive deafness with stapes fixation ORPHA:3235
- Multiple synostoses syndrome ORPHA:3237
- Cardiospondylocarpofacial syndrome ORPHA:3238
- Deafness-vitiligo-achalasia syndrome ORPHA:3239
- Deafness-craniofacial syndrome ORPHA:3241
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome ORPHA:1192
- Cataract-deafness-hypogonadism syndrome ORPHA:1383
- Caudal appendage-deafness syndrome ORPHA:1123
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ORPHA:1171
- Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome ORPHA:3240
- Tietz syndrome ORPHA:42665
- Thiamine-responsive megaloblastic anemia syndrome ORPHA:49827
- Lipodystrophy-intellectual disability-deafness syndrome ORPHA:50811
- Branchiogenic deafness syndrome ORPHA:50815
- Mohr-Tranebjaerg syndrome ORPHA:52368
- Branchiootic syndrome ORPHA:52429
- X-linked Charcot-Marie-Tooth disease ORPHA:64747
- X-linked Charcot-Marie-Tooth disease type 5 ORPHA:99014
- X-linked Charcot-Marie-Tooth disease type 1 ORPHA:101075
- X-linked Charcot-Marie-Tooth disease type 2 ORPHA:101076
- X-linked Charcot-Marie-Tooth disease type 3 ORPHA:101077
- X-linked Charcot-Marie-Tooth disease type 4 ORPHA:101078
- X-linked Charcot-Marie-Tooth disease type 6 ORPHA:352675
- Sensorineural hearing loss-early graying-essential tremor syndrome ORPHA:66633
- Bosley-Salih-Alorainy syndrome ORPHA:69737
- Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome ORPHA:71267
- Split hand-split foot-deafness syndrome ORPHA:71271
- Developmental malformations-deafness-dystonia syndrome ORPHA:79107
- Deafness-intellectual disability syndrome, Martin-Probst type ORPHA:85321
- Bartter syndrome type 4 ORPHA:89938
- Deafness with labyrinthine aplasia, microtia, and microdontia ORPHA:90024
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome ORPHA:90103
- Deafness-hypogonadism syndrome ORPHA:90646
- Jervell and Lange-Nielsen syndrome ORPHA:90647
- Charcot-Marie-Tooth disease type 1E ORPHA:90658
- Deafness-infertility syndrome ORPHA:94064
- Riboflavin transporter deficiency ORPHA:97229
- RFVT2-related riboflavin transporter deficiency ORPHA:572543
- RFVT3-related riboflavin transporter deficiency ORPHA:572550
- Neuropathy with hearing impairment ORPHA:139512
- Stapes ankylosis with broad thumbs and toes ORPHA:140917
- Bilateral microtia-deafness-cleft palate syndrome ORPHA:140963
- Spondyloepiphyseal dysplasia, MacDermot type ORPHA:163668
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease ORPHA:163746
- Autosomal dominant otospondylomegaepiphyseal dysplasia ORPHA:166100
- X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome ORPHA:500188
- Combined oxidative phosphorylation defect type 25 ORPHA:447954
- Infantile multisystem neurologic-endocrine-pancreatic disease ORPHA:456312
- Hereditary sensory neuropathy-deafness-dementia syndrome ORPHA:456318
- Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ORPHA:494439
- DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome ORPHA:494444
- Split-foot malformation-mesoaxial polydactyly syndrome ORPHA:488232
- Auditory neuropathy-optic atrophy syndrome ORPHA:542585
- Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome ORPHA:543470
- Oculogastrointestinal-neurodevelopmental syndrome ORPHA:611201
- Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome ORPHA:611207
- Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome ORPHA:603494
- SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome ORPHA:633014
- SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome ORPHA:633021
- SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome ORPHA:633024
- H syndrome ORPHA:168569
- Sinoatrial node dysfunction and deafness ORPHA:324321
- High myopia-sensorineural deafness syndrome ORPHA:363396
- Wolf-Hirschhorn syndrome ORPHA:280
- Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome ORPHA:662179
- Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome ORPHA:684216
- Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome ORPHA:688581
- Turnpenny-Fry syndrome ORPHA:688642
- Adult-onset progressive leukoencephalopathy-early-onset deafness ORPHA:652532
- PBX1-related congenital anomalies of kidney-urinary tract syndrome ORPHA:656130
- Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome ORPHA:659975
- Difference of sex development ORPHA:90771
- 46,XX difference of sex development ORPHA:2982
- 46,XX difference of sex development induced by androgens excess ORPHA:98078
- 46,XX difference of sex development induced by fetal androgens excess ORPHA:90776
- Generalized glucocorticoid resistance syndrome ORPHA:786
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency ORPHA:90791
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ORPHA:90794
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form ORPHA:315306
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form ORPHA:315311
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ORPHA:90795
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ORPHA:95699
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- 46,XX difference of sex development induced by maternal-derived androgen ORPHA:91144
- 46,XX difference of sex development induced by endogenous maternal-derived androgen ORPHA:325093
- 46,XX difference of sex development induced by exogenous maternal-derived androgen ORPHA:325099
- 46,XX difference of sex development induced by fetoplacental androgens excess ORPHA:325061
- 46,XX disorder of gonadal development ORPHA:325055
- 46,XX gonadal dysgenesis ORPHA:243
- 46,XX ovotesticular difference of sex development ORPHA:2138
- 46,XX testicular difference of sex development ORPHA:393
- 46,XX ovarian dysgenesis-short stature syndrome ORPHA:444048
- Syndrome with 46,XX difference of sex development ORPHA:325109
- PAGOD syndrome ORPHA:991
- Perrault syndrome ORPHA:2855
- 46,XX difference of sex development-anorectal anomalies syndrome ORPHA:2973
- 46,XX difference of sex development-skeletal anomalies syndrome ORPHA:2975
- Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome ORPHA:85112
- Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome ORPHA:137631
- SERKAL syndrome ORPHA:139466
- Müllerian aplasia and hyperandrogenism ORPHA:247768
- 46,XY difference of sex development ORPHA:98085
- Penile agenesis ORPHA:49
- Syndrome with 46,XY difference of sex development ORPHA:98087
- WAGR syndrome ORPHA:893
- Distal deletion 9p syndrome ORPHA:1642
- XY type gonadal dysgenesis-associated anomalies syndrome ORPHA:1770
- Difference of sex development-intellectual disability syndrome ORPHA:2983
- Chondrodysplasia-difference of sex development syndrome ORPHA:1422
- X-linked alpha-thalassemia-intellectual disability syndrome ORPHA:847
- Campomelic dysplasia ORPHA:140
- PAGOD syndrome ORPHA:991
- Dysmorphism-short stature-deafness-difference of sex development syndrome ORPHA:2282
- Meacham syndrome ORPHA:3097
- Denys-Drash syndrome ORPHA:220
- Frasier syndrome ORPHA:347
- X-linked lissencephaly with abnormal genitalia ORPHA:452
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone ORPHA:95700
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome ORPHA:168563
- Sudden infant death-dysgenesis of the testes syndrome ORPHA:168593
- X-linked myotubular myopathy-abnormal genitalia syndrome ORPHA:456328
- MIRAGE syndrome ORPHA:494433
- Genitopalatocardiac syndrome ORPHA:2075
- 46,XY disorder of gonadal development ORPHA:325118
- 46,XY complete gonadal dysgenesis ORPHA:242
- Testicular regression syndrome ORPHA:983
- 46,XY partial gonadal dysgenesis ORPHA:251510
- Testicular agenesis ORPHA:325124
- 46,XY ovotesticular difference of sex development ORPHA:325345
- 46,XY difference of sex development of endocrine origin ORPHA:325351
- Androgen insensitivity syndrome ORPHA:754
- Partial androgen insensitivity syndrome ORPHA:90797
- Complete androgen insensitivity syndrome ORPHA:99429
- Persistent Müllerian duct syndrome ORPHA:2856
- 46,XY difference of sex development due to impaired androgen production ORPHA:325357
- Leydig cell hypoplasia ORPHA:755
- Leydig cell hypoplasia due to complete LH resistance ORPHA:96265
- Leydig cell hypoplasia due to partial LH resistance ORPHA:96266
- Leydig cell hypoplasia due to LHB deficiency ORPHA:325448
- 46,XY difference of sex development due to a testosterone synthesis defect ORPHA:90783
- 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect ORPHA:90786
- Congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:90790
- Classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325524
- Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325529
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency ORPHA:90791
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ORPHA:90793
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ORPHA:95699
- 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency ORPHA:168558
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- 46,XY difference of sex development due to testicular steroidogenesis defect ORPHA:90787
- 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency ORPHA:752
- 46,XY difference of sex development due to isolated 17,20-lyase deficiency ORPHA:90796
- 46,XY difference of sex development due to a cholesterol synthesis defect ORPHA:325511
- 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue ORPHA:98086
- 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect ORPHA:443090
- 46,XY difference of sex development induced by maternal exposure to endocrine disruptors ORPHA:325537
- Sex chromosome difference of sex development ORPHA:325546
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- 48,XXYY syndrome ORPHA:10
- 45,X/46,XY mixed gonadal dysgenesis ORPHA:1772
- 48,XXXY syndrome ORPHA:96263
- 49,XXXXY syndrome ORPHA:96264
- Tetragametic chimerism syndrome ORPHA:199310
- Conjoined twins ORPHA:647916