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- Rare neurologic disease ORPHA:98006
- Recessive KLHL7-related disorder ORPHA:603699
- Spinal cord injury ORPHA:90058
- USP18 deficiency ORPHA:481665
- Moderate and severe traumatic brain injury ORPHA:90056
- Secondary erythromelalgia ORPHA:529864
- Balint syndrome ORPHA:363746
- Persistent idiopathic facial pain ORPHA:398147
- Rare autonomic nervous system disorder ORPHA:423662
- Rare epilepsy ORPHA:101998
- Epilepsy syndrome ORPHA:166463
- Epileptic encephalopathy with global cerebral demyelination ORPHA:353217
- Infantile spasms-broad thumbs syndrome ORPHA:3173
- Epilepsy-telangiectasia syndrome ORPHA:1951
- Early-onset progressive encephalopathy with migrant continuous myoclonus ORPHA:1943
- Moynahan syndrome ORPHA:2574
- W syndrome ORPHA:2804
- PEHO syndrome ORPHA:2836
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome ORPHA:1192
- Myoclonic epilepsy in non-progressive encephalopathies ORPHA:86913
- Benign partial infantile seizures ORPHA:166311
- Familial or sporadic hemiplegic migraine ORPHA:569
- Infantile convulsions and choreoathetosis ORPHA:31709
- Benign infantile focal epilepsy with midline spikes and waves during sleep ORPHA:166308
- Childhood-onset epilepsy syndrome ORPHA:98259
- Lennox-Gastaut syndrome ORPHA:2382
- Epilepsy with myoclonic-atonic seizures ORPHA:1942
- Familial partial epilepsy ORPHA:309
- Juvenile absence epilepsy ORPHA:1941
- Juvenile myoclonic epilepsy ORPHA:307
- Self-limited epilepsy with centrotemporal spikes ORPHA:1945
- Genetic epilepsy with febrile seizure plus ORPHA:36387
- Childhood absence epilepsy ORPHA:64280
- Generalized epilepsy-paroxysmal dyskinesia syndrome ORPHA:79137
- Sleep-related hypermotor epilepsy ORPHA:98784
- Familial temporal lobe epilepsy ORPHA:98819
- Familial focal epilepsy with variable foci ORPHA:98820
- Mesial temporal lobe epilepsy with hippocampal sclerosis ORPHA:99701
- Epilepsy with auditory features ORPHA:101046
- Familial mesial temporal lobe epilepsy ORPHA:163717
- Familial mesial temporal lobe epilepsy with febrile seizures ORPHA:165805
- Reflex epilepsy ORPHA:310
- Photosensitive occipital lobe epilepsy ORPHA:166409
- Hot water reflex epilepsy ORPHA:166412
- Audiogenic seizures ORPHA:166415
- Eating reflex epilepsy ORPHA:166418
- Orgasm-induced seizures ORPHA:166421
- Thinking seizures ORPHA:166424
- Startle epilepsy ORPHA:166427
- Micturation-induced seizures ORPHA:166430
- Epilepsy with reading-induced seizures ORPHA:166433
- Developmental and epileptic encephalopathy with spike-wave activation in sleep ORPHA:725
- Self-limited childhood occipital epilepsy ORPHA:25968
- Self-limited epilepsy with autonomic seizures ORPHA:98815
- Childhood occipital visual epilepsy ORPHA:98816
- Epilepsy with myoclonic absences ORPHA:86911
- Progressive myoclonic epilepsy ORPHA:98261
- MERRF ORPHA:551
- Lafora disease ORPHA:501
- Progressive myoclonic epilepsy type 1 ORPHA:308
- Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947
- CLN3 disease ORPHA:228346
- CLN4 disease ORPHA:228343
- CLN5 disease ORPHA:228360
- Familial encephalopathy with neuroserpin inclusion bodies ORPHA:85110
- Progressive dementia with neuroserpin inclusion bodies ORPHA:530303
- Progressive myoclonic epilepsy with neuroserpin inclusion bodies ORPHA:530298
- CLN1 disease ORPHA:228329
- CLN2 disease ORPHA:228349
- Progressive myoclonic epilepsy type 6 ORPHA:280620
- PRDM8-related progressive myoclonus epilepsy ORPHA:324290
- Progressive myoclonic epilepsy type 5 ORPHA:402082
- Progressive myoclonic epilepsy type 8 ORPHA:424027
- Progressive myoclonic epilepsy type 7 ORPHA:435438
- CLN6 disease ORPHA:228363
- CLN7 disease ORPHA:228366
- CLN8 disease ORPHA:228354
- CLN10 disease ORPHA:228337
- CLN13 disease ORPHA:352709
- Progressive myoclonic epilepsy type 3 ORPHA:263516
- Progressive myoclonic epilepsy type 9 ORPHA:457265
- CLN11 disease ORPHA:314629
- Spinal muscular atrophy-progressive myoclonic epilepsy syndrome ORPHA:2590
- Landau-Kleffner syndrome ORPHA:98818
- Perioral myoclonia with absences ORPHA:139426
- Epilepsy with eyelid myoclonia ORPHA:139431
- Cryptogenic late-onset epileptic spasms ORPHA:163708
- Rolandic epilepsy-speech dyspraxia syndrome ORPHA:163721
- Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome ORPHA:163727
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation ORPHA:289266
- Acute encephalopathy with inflammation-mediated status epilepticus ORPHA:363567
- Adolescent-onset epilepsy syndrome ORPHA:98260
- Familial partial epilepsy ORPHA:309
- Juvenile absence epilepsy ORPHA:1941
- Juvenile myoclonic epilepsy ORPHA:307
- Self-limited epilepsy with centrotemporal spikes ORPHA:1945
- Genetic epilepsy with febrile seizure plus ORPHA:36387
- Childhood absence epilepsy ORPHA:64280
- Generalized epilepsy-paroxysmal dyskinesia syndrome ORPHA:79137
- Sleep-related hypermotor epilepsy ORPHA:98784
- Familial temporal lobe epilepsy ORPHA:98819
- Familial focal epilepsy with variable foci ORPHA:98820
- Mesial temporal lobe epilepsy with hippocampal sclerosis ORPHA:99701
- Epilepsy with auditory features ORPHA:101046
- Familial mesial temporal lobe epilepsy ORPHA:163717
- Familial mesial temporal lobe epilepsy with febrile seizures ORPHA:165805
- Benign focal seizures of adolescence ORPHA:1544
- Reflex epilepsy ORPHA:310
- Photosensitive occipital lobe epilepsy ORPHA:166409
- Hot water reflex epilepsy ORPHA:166412
- Audiogenic seizures ORPHA:166415
- Eating reflex epilepsy ORPHA:166418
- Orgasm-induced seizures ORPHA:166421
- Thinking seizures ORPHA:166424
- Startle epilepsy ORPHA:166427
- Micturation-induced seizures ORPHA:166430
- Epilepsy with reading-induced seizures ORPHA:166433
- Familial adult myoclonic epilepsy ORPHA:86814
- Progressive myoclonic epilepsy ORPHA:98261
- MERRF ORPHA:551
- Lafora disease ORPHA:501
- Progressive myoclonic epilepsy type 1 ORPHA:308
- Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947
- CLN3 disease ORPHA:228346
- CLN4 disease ORPHA:228343
- CLN5 disease ORPHA:228360
- Familial encephalopathy with neuroserpin inclusion bodies ORPHA:85110
- Progressive dementia with neuroserpin inclusion bodies ORPHA:530303
- Progressive myoclonic epilepsy with neuroserpin inclusion bodies ORPHA:530298
- CLN1 disease ORPHA:228329
- CLN2 disease ORPHA:228349
- Progressive myoclonic epilepsy type 6 ORPHA:280620
- PRDM8-related progressive myoclonus epilepsy ORPHA:324290
- Progressive myoclonic epilepsy type 5 ORPHA:402082
- Progressive myoclonic epilepsy type 8 ORPHA:424027
- Progressive myoclonic epilepsy type 7 ORPHA:435438
- CLN6 disease ORPHA:228363
- CLN7 disease ORPHA:228366
- CLN8 disease ORPHA:228354
- CLN10 disease ORPHA:228337
- CLN13 disease ORPHA:352709
- Progressive myoclonic epilepsy type 3 ORPHA:263516
- Progressive myoclonic epilepsy type 9 ORPHA:457265
- CLN11 disease ORPHA:314629
- Spinal muscular atrophy-progressive myoclonic epilepsy syndrome ORPHA:2590
- New-onset refractory status epilepticus ORPHA:363558
- PEHO-like syndrome ORPHA:99807
- CNTNAP2-related developmental and epileptic encephalopathy ORPHA:163681
- Action myoclonus-renal failure syndrome ORPHA:163696
- Intermediate DEND syndrome ORPHA:99989
- STXBP1-related encephalopathy ORPHA:599373
- Neonatal-infantile onset epilepsy syndrome ORPHA:693802
- Early infantile developmental and epileptic encephalopathy ORPHA:1934
- Self-limited neonatal epilepsy ORPHA:1949
- MECP2-related severe neonatal encephalopathy ORPHA:209370
- Epilepsy of infancy with migrating focal seizures ORPHA:293181
- Dravet syndrome ORPHA:33069
- Genetic epilepsy with febrile seizure plus ORPHA:36387
- Myoclonic epilepsy of infancy ORPHA:86909
- SYNGAP1-related developmental and epileptic encephalopathy ORPHA:544254
- Classic glucose transporter type 1 deficiency syndrome ORPHA:71277
- Sturge-Weber syndrome ORPHA:3205
- Pyridoxine-dependent-developmental and epileptic encephalopathy ORPHA:3006
- Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy ORPHA:79096
- Gelastic seizures with hypothalamic hamartoma ORPHA:86906
- KCNQ2-related developmental and epileptic encephalopathy ORPHA:439218
- Self-limited infantile epilepsy ORPHA:306
- Self-limited neonatal-infantile epilepsy ORPHA:140927
- Neurocutaneous syndrome with epilepsy ORPHA:166466
- Neurofibromatosis type 1 ORPHA:636
- 17q11 microdeletion syndrome ORPHA:97685
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion ORPHA:363700
- Incontinentia pigmenti ORPHA:464
- Proteus syndrome ORPHA:744
- Sturge-Weber syndrome ORPHA:3205
- Tuberous sclerosis complex ORPHA:805
- Neuroectodermal melanolysosomal disease ORPHA:33445
- Chromosomal anomaly with epilepsy as a major feature ORPHA:166469
- 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 a point mutation ORPHA:411511
- Angelman syndrome due to imprinting defect in 15q11-q13 ORPHA:411515
- Fragile X syndrome ORPHA:908
- Wolf-Hirschhorn syndrome ORPHA:280
- Pallister-Killian syndrome ORPHA:884
- Ring chromosome 20 syndrome ORPHA:1444
- Inverted duplicated chromosome 15 syndrome ORPHA:3306
- Ring chromosome 14 syndrome ORPHA:1440
- 1p36 deletion syndrome ORPHA:1606
- Miller-Dieker syndrome ORPHA:531
- Kleefstra syndrome due to 9q34 microdeletion ORPHA:96147
- 15q13.3 microdeletion syndrome ORPHA:199318
- Mowat-Wilson syndrome due to monosomy 2q22 ORPHA:261537
- Microduplication Xp11.22p11.23 syndrome ORPHA:217377
- 9q33.3q34.11 microdeletion syndrome ORPHA:495818
- 5q14.3 microdeletion syndrome ORPHA:228384
- 2q23.1 microdeletion syndrome ORPHA:228402
- Monogenic disease with epilepsy ORPHA:166472
- PUM1-associated developmental disability-ataxia-seizure syndrome ORPHA:589515
- Autosomal dominant hypocalcemia ORPHA:428
- Rett syndrome ORPHA:778
- Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947
- X-linked intellectual disability-epilepsy syndrome ORPHA:2076
- X-linked intellectual disability, Hedera type ORPHA:93952
- Female restricted epilepsy with intellectual disability ORPHA:101039
- Hyperekplexia-epilepsy syndrome ORPHA:163985
- Atypical Rett syndrome ORPHA:3095
- KDM5C-related syndromic X-linked intellectual disability ORPHA:85279
- X-linked epilepsy-learning disabilities-behavior disorders syndrome ORPHA:85294
- ARX-related epileptic encephalopathy ORPHA:182079
- Early infantile developmental and epileptic encephalopathy ORPHA:1934
- X-linked spasticity-intellectual disability-epilepsy syndrome ORPHA:3175
- Partington syndrome ORPHA:94083
- Infantile epileptic-dyskinetic encephalopathy ORPHA:364063
- ARX-related encephalopathy-brain malformation spectrum ORPHA:423655
- Channelopathy with epilepsy ORPHA:182083
- Familial partial epilepsy ORPHA:309
- Juvenile absence epilepsy ORPHA:1941
- Juvenile myoclonic epilepsy ORPHA:307
- Self-limited epilepsy with centrotemporal spikes ORPHA:1945
- Genetic epilepsy with febrile seizure plus ORPHA:36387
- Childhood absence epilepsy ORPHA:64280
- Generalized epilepsy-paroxysmal dyskinesia syndrome ORPHA:79137
- Sleep-related hypermotor epilepsy ORPHA:98784
- Familial temporal lobe epilepsy ORPHA:98819
- Familial focal epilepsy with variable foci ORPHA:98820
- Mesial temporal lobe epilepsy with hippocampal sclerosis ORPHA:99701
- Epilepsy with auditory features ORPHA:101046
- Familial mesial temporal lobe epilepsy ORPHA:163717
- Familial mesial temporal lobe epilepsy with febrile seizures ORPHA:165805
- Dravet syndrome ORPHA:33069
- EAST syndrome ORPHA:199343
- Epilepsy of infancy with migrating focal seizures ORPHA:293181
- Early infantile developmental and epileptic encephalopathy ORPHA:1934
- Thiamine-responsive encephalopathy ORPHA:199348
- MECP2-related severe neonatal encephalopathy ORPHA:209370
- Familial infantile myoclonic epilepsy ORPHA:352582
- Focal epilepsy-intellectual disability-cerebro-cerebellar malformation ORPHA:352587
- Progressive myoclonic epilepsy with dystonia ORPHA:352596
- Borjeson-Forssman-Lehmann syndrome ORPHA:127
- Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression ORPHA:391316
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome ORPHA:404481
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency ORPHA:284282
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency ORPHA:404493
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency ORPHA:404499
- Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome ORPHA:411986
- Lethal neonatal spasticity-epileptic encephalopathy syndrome ORPHA:435845
- Non-specific early-onset epileptic encephalopathy ORPHA:442835
- RNF13-related severe early-onset epileptic encephalopathy ORPHA:544503
- Craniosynostosis-microretrognathia-severe intellectual disability syndrome ORPHA:565858
- FOXG1 syndrome ORPHA:561854
- FOXG1 syndrome due to intragenic alteration ORPHA:598164
- FOXG1 syndrome due to 14q12 microdeletion ORPHA:261144
- Primary hypomagnesemia-refractory seizures-intellectual disability syndrome ORPHA:564178
- Spastic paraplegia-severe developmental delay-epilepsy syndrome ORPHA:464282
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ORPHA:496641
- Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract ORPHA:500545
- Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome ORPHA:500533
- CDKL5-deficiency disorder ORPHA:505652
- Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome ORPHA:505237
- Episodic ataxia type 1 ORPHA:37612
- Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome ORPHA:488613
- 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
- Pitt-Hopkins syndrome ORPHA:2896
- Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome ORPHA:397933
- Rare non-syndromic intellectual disability ORPHA:101685
- X-linked non-syndromic intellectual disability ORPHA:777
- Autosomal recessive non-syndromic intellectual disability ORPHA:88616
- Autosomal dominant non-syndromic intellectual disability ORPHA:178469
- GNAO1-related developmental delay-seizures-movement disorder spectrum ORPHA:592564
- Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome ORPHA:684232
- Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome ORPHA:684240
- NESCAV syndrome ORPHA:662367
- Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome ORPHA:684216
- Poirier-Bienvenue neurodevelopmental syndrome ORPHA:689397
- Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes ORPHA:166475
- Familial partial epilepsy ORPHA:309
- Juvenile absence epilepsy ORPHA:1941
- Juvenile myoclonic epilepsy ORPHA:307
- Self-limited epilepsy with centrotemporal spikes ORPHA:1945
- Genetic epilepsy with febrile seizure plus ORPHA:36387
- Childhood absence epilepsy ORPHA:64280
- Generalized epilepsy-paroxysmal dyskinesia syndrome ORPHA:79137
- Sleep-related hypermotor epilepsy ORPHA:98784
- Familial temporal lobe epilepsy ORPHA:98819
- Familial focal epilepsy with variable foci ORPHA:98820
- Mesial temporal lobe epilepsy with hippocampal sclerosis ORPHA:99701
- Epilepsy with auditory features ORPHA:101046
- Familial mesial temporal lobe epilepsy ORPHA:163717
- Familial mesial temporal lobe epilepsy with febrile seizures ORPHA:165805
- Self-limited infantile epilepsy ORPHA:306
- Self-limited neonatal-infantile epilepsy ORPHA:140927
- Cerebral malformation with epilepsy ORPHA:166478
- Oculocerebrocutaneous syndrome ORPHA:1647
- Aicardi syndrome ORPHA:50
- 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
- Schizencephaly ORPHA:799
- Porencephaly ORPHA:2940
- 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 phosphoserine aminotransferase deficiency ORPHA:583602
- Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency ORPHA:583607
- Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency ORPHA:583612
- 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
- Microlissencephaly-micromelia syndrome ORPHA:50810
- Gelastic seizures with hypothalamic hamartoma ORPHA:86906
- 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
- Polymicrogyria with optic nerve hypoplasia ORPHA:250972
- Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome ORPHA:306558
- Focal epilepsy-intellectual disability-cerebro-cerebellar malformation ORPHA:352587
- Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome ORPHA:401959
- Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome ORPHA:404437
- X-linked intellectual disability-cerebellar hypoplasia syndrome ORPHA:137831
- Christianson syndrome ORPHA:85278
- 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
- Metabolic diseases with epilepsy ORPHA:166481
- DEND syndrome ORPHA:79134
- Lysosomal disease with epilepsy ORPHA:225681
- Aspartylglucosaminuria ORPHA:93
- Mucolipidosis type IV ORPHA:578
- Free sialic acid storage disease ORPHA:834
- Free sialic acid storage disease, infantile form ORPHA:309324
- Intermediate severe Salla disease ORPHA:309331
- Salla disease ORPHA:309334
- Neuronal ceroid lipofuscinosis ORPHA:216
- Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947
- CLN1 disease ORPHA:228329
- CLN2 disease ORPHA:228349
- CLN3 disease ORPHA:228346
- CLN4 disease ORPHA:228343
- CLN12 disease ORPHA:314632
- CLN11 disease ORPHA:314629
- CLN5 disease ORPHA:228360
- CLN6 disease ORPHA:228363
- CLN7 disease ORPHA:228366
- CLN8 disease ORPHA:228354
- CLN13 disease ORPHA:352709
- CLN10 disease ORPHA:228337
- 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
- Alpha-N-acetylgalactosaminidase deficiency ORPHA:3137
- Alpha-N-acetylgalactosaminidase deficiency type 1 ORPHA:79279
- Alpha-N-acetylgalactosaminidase deficiency type 2 ORPHA:79280
- Alpha-N-acetylgalactosaminidase deficiency type 3 ORPHA:79281
- Sphingolipidosis with epilepsy ORPHA:371442
- Chronic neurovisceral acid sphingomyelinase deficiency ORPHA:618891
- Multiple sulfatase deficiency ORPHA:585
- Farber disease ORPHA:333
- Krabbe disease ORPHA:487
- Late-infantile/juvenile Krabbe disease ORPHA:206443
- Adult Krabbe disease ORPHA:206448
- Infantile Krabbe disease ORPHA:206436
- Fabry disease ORPHA:324
- Metachromatic leukodystrophy ORPHA:512
- Metachromatic leukodystrophy, late infantile form ORPHA:309256
- Metachromatic leukodystrophy, juvenile form ORPHA:309263
- Metachromatic leukodystrophy, adult form ORPHA:309271
- Niemann-Pick disease type C ORPHA:646
- Niemann-Pick disease type C, severe perinatal form ORPHA:216972
- Niemann-Pick disease type C, severe early infantile neurologic onset ORPHA:216975
- Niemann-Pick disease type C, late infantile neurologic onset ORPHA:216978
- Niemann-Pick disease type C, juvenile neurologic onset ORPHA:216981
- Niemann-Pick disease type C, adult neurologic onset ORPHA:216986
- Gaucher disease type 2 ORPHA:77260
- Gaucher disease type 3 ORPHA:77261
- Infantile neurovisceral acid sphingomyelinase deficiency ORPHA:77292
- Encephalopathy due to prosaposin deficiency ORPHA:139406
- Gangliosidosis ORPHA:309144
- GM1 gangliosidosis ORPHA:354
- GM1 gangliosidosis type 1 ORPHA:79255
- GM1 gangliosidosis type 2 ORPHA:79256
- GM1 gangliosidosis type 3 ORPHA:79257
- GM2 gangliosidosis ORPHA:309152
- Sandhoff disease ORPHA:796
- Sandhoff disease, infantile form ORPHA:309155
- Sandhoff disease, juvenile form ORPHA:309162
- Sandhoff disease, adult form ORPHA:309169
- Tay-Sachs disease ORPHA:845
- Tay-Sachs disease, infantile form ORPHA:309178
- Tay-Sachs disease, juvenile form ORPHA:309185
- Tay-Sachs disease, adult form ORPHA:309192
- GM2 gangliosidosis, AB variant ORPHA:309246
- Peroxisomal disease with epilepsy ORPHA:225686
- Zellweger syndrome ORPHA:912
- Neonatal adrenoleukodystrophy ORPHA:44
- Peroxisomal acyl-CoA oxidase deficiency ORPHA:2971
- X-linked adrenoleukodystrophy ORPHA:43
- 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
- Infantile Refsum disease ORPHA:772
- Fatty acyl-CoA reductase 1 deficiency ORPHA:438178
- Amino acid or protein metabolism disease with epilepsy ORPHA:225689
- Canavan disease ORPHA:141
- 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
- Phenylketonuria ORPHA:716
- Mild phenylketonuria ORPHA:79253
- Classic phenylketonuria ORPHA:79254
- Mild hyperphenylalaninemia ORPHA:79651
- Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria ORPHA:293284
- 2-hydroxyglutaric aciduria ORPHA:19
- L-2-hydroxyglutaric aciduria ORPHA:79314
- D-2-hydroxyglutaric aciduria ORPHA:79315
- D,L-2-hydroxyglutaric aciduria ORPHA:356978
- Glycine encephalopathy ORPHA:407
- Neonatal glycine encephalopathy ORPHA:289857
- Infantile glycine encephalopathy ORPHA:289860
- Atypical glycine encephalopathy ORPHA:289863
- Hyperprolinemia type 1 ORPHA:419
- Hyperprolinemia type 2 ORPHA:79101
- 2-methylbutyryl-CoA dehydrogenase deficiency ORPHA:79157
- Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency ORPHA:308410
- Hyper-beta-alaninemia ORPHA:309147
- Neonatal epileptic encephalopathy due to glutaminase deficiency ORPHA:557064
- 3-methylglutaconic aciduria type 9 ORPHA:505216
- Metal transport or utilization disorder with epilepsy ORPHA:225692
- Energy metabolism disorder with epilepsy ORPHA:225696
- Triose phosphate-isomerase deficiency ORPHA:868
- Glutaric acidemia type 3 ORPHA:35706
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency ORPHA:71212
- Creatine deficiency syndrome ORPHA:79172
- Guanidinoacetate methyltransferase deficiency ORPHA:382
- L-Arginine:glycine amidinotransferase deficiency ORPHA:35704
- X-linked creatine transporter deficiency ORPHA:52503
- Mitochondrial disease with epilepsy ORPHA:225700
- Kearns-Sayre syndrome ORPHA:480
- MELAS ORPHA:550
- MERRF ORPHA:551
- NARP syndrome ORPHA:644
- Pyruvate dehydrogenase deficiency ORPHA:765
- Pyruvate dehydrogenase E3 deficiency ORPHA:2394
- Pyruvate dehydrogenase E1-alpha deficiency ORPHA:79243
- Pyruvate dehydrogenase E2 deficiency ORPHA:79244
- Pyruvate dehydrogenase phosphatase deficiency ORPHA:79246
- Pyruvate dehydrogenase E1-beta deficiency ORPHA:255138
- Pyruvate dehydrogenase E3-binding protein deficiency ORPHA:255182
- Oxoglutaric aciduria ORPHA:31
- Alpers-Huttenlocher syndrome ORPHA:726
- Fumaric aciduria ORPHA:24
- Mitochondrial neurogastrointestinal encephalomyopathy ORPHA:298
- Coenzyme Q10 deficiency ORPHA:35656
- Ataxia-oculomotor apraxia type 1 ORPHA:1168
- Autosomal recessive ataxia due to ubiquinone deficiency ORPHA:139485
- Deafness-encephaloneuropathy-obesity-valvulopathy syndrome ORPHA:254898
- Familial steroid-resistant nephrotic syndrome with sensorineural deafness ORPHA:280406
- Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome ORPHA:319678
- Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ORPHA:457185
- COQ7-related distal hereditary motor neuropathy ORPHA:658778
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome ORPHA:70595
- MEHMO syndrome ORPHA:85282
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ORPHA:70472
- Lipoyl transferase 2 deficiency ORPHA:447795
- Leigh syndrome ORPHA:506
- Lipoic acid synthetase deficiency ORPHA:401859
- Isolated complex I deficiency ORPHA:2609
- Metabolic neurotransmission anomaly with epilepsy ORPHA:225707
- Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome ORPHA:675775
- Succinic semialdehyde dehydrogenase deficiency ORPHA:22
- Pyridoxine-dependent-developmental and epileptic encephalopathy ORPHA:3006
- Gamma-aminobutyric acid transaminase deficiency ORPHA:2066
- Beta-ureidopropionase deficiency ORPHA:65287
- Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy ORPHA:79096
- Metabolic disease involving other neurotransmitter deficiency ORPHA:79219
- Sterol metabolism disorder with epilepsy ORPHA:225710
- Other metabolic disease with epilepsy ORPHA:225713
- Choreoacanthocytosis ORPHA:2388
- McLeod neuroacanthocytosis syndrome ORPHA:59306
- Classic glucose transporter type 1 deficiency syndrome ORPHA:71277
- Constitutional megaloblastic anemia with severe neurologic disease ORPHA:319651
- Adenylosuccinate lyase deficiency ORPHA:46
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome ORPHA:480864
- ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement ORPHA:457375
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency ORPHA:395
- Neurodegenerative syndrome due to cerebral folate transport deficiency ORPHA:217382
- MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome ORPHA:597874
- Congenital disorder of glycosylation with epilepsy as a major feature ORPHA:371071
- DPM1-CDG ORPHA:79322
- MPDU1-CDG ORPHA:79323
- ALG2-CDG ORPHA:79326
- ALG1-CDG ORPHA:79327
- ALG9-CDG ORPHA:79328
- MOGS-CDG ORPHA:79330
- COG7-CDG ORPHA:79333
- Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency ORPHA:83639
- DPAGT1-CDG ORPHA:86309
- COG8-CDG ORPHA:95428
- Leukocyte adhesion deficiency type II ORPHA:99843
- SLC35A1-CDG ORPHA:238459
- RFT1-CDG ORPHA:244310
- COG4-CDG ORPHA:263501
- ALG11-CDG ORPHA:280071
- Multiple congenital anomalies-hypotonia-seizures syndrome ORPHA:280633
- Multiple congenital anomalies-hypotonia-seizures syndrome type 2 ORPHA:300496
- ALG13-CDG ORPHA:324422
- Congenital muscular dystrophy with intellectual disability and severe epilepsy ORPHA:329178
- SLC35A2-CDG ORPHA:356961
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- STT3A-CDG ORPHA:370921
- STT3B-CDG ORPHA:370924
- SSR4-CDG ORPHA:370927
- GM3 synthase deficiency ORPHA:370933
- Autism spectrum disorder-epilepsy-arthrogryposis syndrome ORPHA:370943
- CHIME syndrome ORPHA:3474
- Congenital muscular dystrophy, Fukuyama type ORPHA:272
- Walker-Warburg syndrome ORPHA:899
- Muscle-eye-brain disease ORPHA:588
- PMM2-CDG ORPHA:79318
- ALG6-CDG ORPHA:79320
- ALG3-CDG ORPHA:79321
- Early-onset epilepsy-intellectual disability-brain anomalies syndrome ORPHA:488635
- Seizures-scoliosis-macrocephaly syndrome ORPHA:466926
- Inflammatory and autoimmune disease with epilepsy ORPHA:166484
- Behçet disease ORPHA:117
- Sarcoidosis ORPHA:797
- Granulomatosis with polyangiitis ORPHA:900
- Progressive hemifacial atrophy ORPHA:1214
- Celiac disease-epilepsy-cerebral calcification syndrome ORPHA:1459
- Rasmussen subacute encephalitis ORPHA:1929
- Morvan syndrome ORPHA:83467
- Pediatric systemic lupus erythematosus ORPHA:93552
- Acute encephalopathy with inflammation-mediated status epilepticus ORPHA:363567
- Hemiconvulsion-hemiplegia-epilepsy syndrome ORPHA:86908
- Febrile infection-related epilepsy syndrome ORPHA:163703
- Acute encephalopathy with biphasic seizures and late reduced diffusion ORPHA:363549
- New-onset refractory status epilepticus ORPHA:363558
- Non-specific autoimmune supratentorial encephalitis with characteristic antibodies ORPHA:624166
- Non-specific autoimmune supratentorial encephalitis without characteristic antibodies ORPHA:624178
- Cerebral diseases of vascular origin with epilepsy ORPHA:166487
- Cerebral proliferative angiopathy ORPHA:692271
- Sturge-Weber syndrome ORPHA:3205
- Hereditary neurocutaneous malformation ORPHA:1062
- Infectious disease with epilepsy ORPHA:166490
- Congenital rubella syndrome ORPHA:290
- Congenital toxoplasmosis ORPHA:858
- Subacute sclerosing leukoencephalitis ORPHA:2806
- Fetal cytomegalovirus syndrome ORPHA:294
- Herpes simplex virus encephalitis ORPHA:1930
- Tick-borne encephalitis ORPHA:297
- Meningococcal meningitis ORPHA:33475
- Pneumococcal meningitis ORPHA:55655
- Japanese encephalitis ORPHA:79139
- West-Nile encephalitis ORPHA:83476
- Mycoplasma encephalitis ORPHA:83482
- La Crosse encephalitis ORPHA:83483
- St. Louis encephalitis ORPHA:83484
- Western equine encephalitis ORPHA:83593
- Eastern equine encephalitis ORPHA:83594
- Colorado tick fever ORPHA:83595
- Acute disseminated encephalomyelitis ORPHA:83597
- Acute disseminated encephalomyelitis with anti-MOG antibodies ORPHA:592894
- Acute disseminated encephalomyelitis without anti-MOG antibodies ORPHA:592900
- Encephalitis lethargica ORPHA:83600
- Rubella panencephalitis ORPHA:83616
- Borna virus encephalitis ORPHA:637051
- Medullar disease ORPHA:102000
- Acute flaccid myelitis ORPHA:623801
- Primary basilar invagination ORPHA:2285
- Ataxia-pancytopenia syndrome ORPHA:2585
- Syringomyelia ORPHA:3280
- Congenital cervical spinal stenosis ORPHA:831
- Radiation myelitis ORPHA:90021
- Acute transverse myelitis ORPHA:139417
- Rare ataxia ORPHA:102002
- Hereditary ataxia ORPHA:183518
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome ORPHA:502423
- Autosomal dominant cerebellar ataxia ORPHA:99
- Autosomal dominant cerebellar ataxia type I ORPHA:94145
- Spinocerebellar ataxia type 19/22 ORPHA:98772
- Spinocerebellar ataxia type 21 ORPHA:98773
- Spinocerebellar ataxia type 23 ORPHA:101108
- Spinocerebellar ataxia type 28 ORPHA:101109
- Spinocerebellar ataxia type 20 ORPHA:101110
- Spinocerebellar ataxia type 25 ORPHA:101111
- Spinocerebellar ataxia type 29 ORPHA:208513
- Spinocerebellar ataxia type 32 ORPHA:276183
- Spinocerebellar ataxia type 35 ORPHA:276193
- Spinocerebellar ataxia type 36 ORPHA:276198
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome ORPHA:314404
- Non-progressive cerebellar ataxia with intellectual disability ORPHA:314647
- Spinocerebellar ataxia type 37 ORPHA:363710
- Spinocerebellar ataxia type 40 ORPHA:423275
- Spinocerebellar ataxia type 34 ORPHA:1955
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ORPHA:1171
- Spinocerebellar ataxia type 1 ORPHA:98755
- Spinocerebellar ataxia type 2 ORPHA:98756
- Spinocerebellar ataxia type 3 ORPHA:98757
- Machado-Joseph disease type 1 ORPHA:276238
- Machado-Joseph disease type 2 ORPHA:276241
- Machado-Joseph disease type 3 ORPHA:276244
- Spinocerebellar ataxia type 17 ORPHA:98759
- Spinocerebellar ataxia type 8 ORPHA:98760
- Spinocerebellar ataxia type 12 ORPHA:98762
- Spinocerebellar ataxia type 14 ORPHA:98763
- Spinocerebellar ataxia type 27A ORPHA:98764
- Spinocerebellar ataxia type 4 ORPHA:98765
- Spinocerebellar ataxia type 13 ORPHA:98768
- Spinocerebellar ataxia type 15/16 ORPHA:98769
- Spinocerebellar ataxia type 18 ORPHA:98771
- Spinocerebellar ataxia type 43 ORPHA:497764
- PUM1-associated developmental disability-ataxia-seizure syndrome ORPHA:589515
- Spinocerebellar ataxia type 46 ORPHA:589522
- Spinocerebellar ataxia type 48 ORPHA:631103
- Spinocerebellar ataxia type 27B ORPHA:675216
- Spinocerebellar ataxia type 49 ORPHA:631106
- Autosomal dominant cerebellar ataxia type III ORPHA:94148
- Spinocerebellar ataxia type 45 ORPHA:589527
- Spinocerebellar ataxia type 44 ORPHA:631095
- Spinocerebellar ataxia type 6 ORPHA:98758
- Spinocerebellar ataxia type 5 ORPHA:98766
- Spinocerebellar ataxia type 11 ORPHA:98767
- Spinocerebellar ataxia type 26 ORPHA:101112
- Spinocerebellar ataxia type 30 ORPHA:211017
- Spinocerebellar ataxia type 31 ORPHA:217012
- Spinocerebellar ataxia type 38 ORPHA:423296
- Spinocerebellar ataxia type 41 ORPHA:458798
- Spinocerebellar ataxia type 42 ORPHA:458803
- Autosomal dominant cerebellar ataxia type IV ORPHA:94149
- Autosomal dominant cerebellar ataxia type II ORPHA:208508
- PUM1-related cerebellar ataxia ORPHA:642747
- Ataxia-tapetoretinal degeneration syndrome ORPHA:1178
- Cerebellar ataxia-hypogonadism syndrome ORPHA:1173
- Ataxia-hypogonadism-choroidal dystrophy syndrome ORPHA:1180
- Spinocerebellar ataxia-dysmorphism syndrome ORPHA:1185
- Cataract-ataxia-deafness syndrome ORPHA:1368
- Richards-Rundle syndrome ORPHA:1399
- Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome ORPHA:2274
- Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome ORPHA:2579
- Myoclonus-cerebellar ataxia-deafness syndrome ORPHA:2589
- Spinocerebellar degeneration-corneal dystrophy syndrome ORPHA:3177
- Autosomal recessive cerebellar ataxia ORPHA:1172
- Autosomal recessive ataxia, Beauce type ORPHA:88644
- Autosomal recessive congenital cerebellar ataxia ORPHA:98095
- Autosomal recessive cerebelloparenchymal disorder type 3 ORPHA:1170
- Dysequilibrium syndrome ORPHA:1766
- CAMOS syndrome ORPHA:83472
- Cerebellar ataxia, Cayman type ORPHA:94122
- Joubert syndrome and related disorders ORPHA:140874
- Joubert syndrome with oculorenal defect ORPHA:2318
- Joubert syndrome ORPHA:475
- Joubert syndrome with hepatic defect ORPHA:1454
- Orofaciodigital syndrome type 6 ORPHA:2754
- Joubert syndrome with ocular defect ORPHA:220493
- Joubert syndrome with renal defect ORPHA:220497
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy ORPHA:397715
- Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency ORPHA:453521
- Congenital cerebellar ataxia due to RNU12 mutation ORPHA:512260
- Autosomal recessive metabolic cerebellar ataxia ORPHA:98096
- Autosomal recessive ataxia due to PEX2 deficiency ORPHA:642965
- Ataxia with vitamin E deficiency ORPHA:96
- Abetalipoproteinemia ORPHA:14
- Refsum disease ORPHA:773
- Cerebrotendinous xanthomatosis ORPHA:909
- Infantile Refsum disease ORPHA:772
- Recessive mitochondrial ataxia syndrome ORPHA:94125
- Autosomal recessive ataxia due to PEX10 deficiency ORPHA:247815
- Autosomal recessive cerebellar ataxia with late-onset spasticity ORPHA:352641
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome ORPHA:363429
- Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency ORPHA:324262
- Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency ORPHA:363432
- Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome ORPHA:95433
- Autosomal recessive ataxia due to PEX16 deficiency ORPHA:642954
- Autosomal recessive cerebellar ataxia due to a DNA repair defect ORPHA:98097
- Ataxia-telangiectasia ORPHA:100
- Ataxia-oculomotor apraxia type 1 ORPHA:1168
- Spinocerebellar ataxia with axonal neuropathy type 2 ORPHA:64753
- Spinocerebellar ataxia with axonal neuropathy type 1 ORPHA:94124
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Ataxia-telangiectasia-like disorder ORPHA:251347
- Xeroderma pigmentosum ORPHA:910
- RIDDLE syndrome ORPHA:420741
- Autosomal recessive degenerative and progressive cerebellar ataxia ORPHA:98098
- Friedreich ataxia ORPHA:95
- Early-onset cerebellar ataxia with retained tendon reflexes ORPHA:1177
- Infantile-onset spinocerebellar ataxia ORPHA:1186
- Marinesco-Sjögren syndrome ORPHA:559
- Congenital cataracts-facial dysmorphism-neuropathy syndrome ORPHA:48431
- Posterior column ataxia-retinitis pigmentosa syndrome ORPHA:88628
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome ORPHA:496756
- Autosomal recessive syndromic cerebellar ataxia ORPHA:98099
- Autosomal recessive cerebellar ataxia-movement disorder syndrome ORPHA:95434
- Autosomal recessive cerebellar ataxia-psychomotor delay syndrome ORPHA:284271
- Ataxia-oculomotor apraxia type 4 ORPHA:459033
- Gemignani syndrome ORPHA:2074
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome ORPHA:504476
- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome ORPHA:466794
- Autosomal recessive ataxia due to ubiquinone deficiency ORPHA:139485
- Adult-onset autosomal recessive cerebellar ataxia ORPHA:284289
- Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia ORPHA:284324
- Infantile-onset autosomal recessive nonprogressive cerebellar ataxia ORPHA:284332
- Spectrin-associated autosomal recessive cerebellar ataxia ORPHA:352403
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome ORPHA:404481
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency ORPHA:284282
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency ORPHA:404493
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency ORPHA:404499
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency ORPHA:412057
- Spastic paraplegia type 7 ORPHA:99013
- EAST syndrome ORPHA:199343
- Hereditary episodic ataxia ORPHA:211062
- Familial paroxysmal ataxia ORPHA:97
- Episodic ataxia type 1 ORPHA:37612
- Episodic ataxia type 3 ORPHA:79135
- Episodic ataxia type 4 ORPHA:79136
- Episodic ataxia type 6 ORPHA:209967
- Episodic ataxia type 7 ORPHA:209970
- Episodic ataxia type 5 ORPHA:211067
- Episodic ataxia with slurred speech ORPHA:401953
- X-linked cerebellar ataxia ORPHA:247765
- X-linked progressive cerebellar ataxia ORPHA:1175
- Lethal ataxia with deafness and optic atrophy ORPHA:1187
- Ataxia-deafness-intellectual disability syndrome ORPHA:1188
- X-linked sideroblastic anemia and spinocerebellar ataxia ORPHA:2802
- Christianson syndrome ORPHA:85278
- X-linked spinocerebellar ataxia type 4 ORPHA:85292
- X-linked spinocerebellar ataxia type 3 ORPHA:85297
- X-linked intellectual disability-ataxia-apraxia syndrome ORPHA:85338
- Fragile X-associated tremor/ataxia syndrome ORPHA:93256
- X-linked non progressive cerebellar ataxia ORPHA:314978
- Spastic ataxia ORPHA:316226
- Autosomal dominant spastic ataxia ORPHA:316235
- Spastic ataxia with congenital miosis ORPHA:1182
- Autosomal dominant spastic ataxia type 1 ORPHA:251282
- Autosomal recessive spastic ataxia ORPHA:316240
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay ORPHA:98
- Spastic ataxia-corneal dystrophy syndrome ORPHA:2572
- Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome ORPHA:254343
- Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome ORPHA:313772
- Autosomal recessive spastic ataxia with leukoencephalopathy ORPHA:314603
- Spastic ataxia-dysarthria due to glutaminase deficiency ORPHA:557056
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy ORPHA:527497
- Childhood-onset spasticity with hyperglycinemia ORPHA:401866
- Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome ORPHA:445062
- Neuhauser-Eichner-Opitz syndrome ORPHA:2672
- Ataxia-photosensitivity-short stature syndrome ORPHA:1184
- Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome ORPHA:1236
- Tremor-ataxia-central hypomyelination syndrome ORPHA:447896
- Hypomyelination of early myelinating structures ORPHA:599376
- RFVT2-related riboflavin transporter deficiency ORPHA:572543
- Non-hereditary degenerative ataxia ORPHA:247239
- Multiple system atrophy, cerebellar type ORPHA:227510
- Sporadic adult-onset ataxia of unknown etiology ORPHA:247234
- Acquired ataxia ORPHA:247242
- Immune-mediated cerebellar ataxia ORPHA:623638
- Non-specific autoimmune cerebellar ataxia without characteristic antibodies ORPHA:624268
- Paraneoplastic cerebellar degeneration ORPHA:623626
- Postinfectious cerebellitis ORPHA:624244
- Non-specific autoimmune cerebellar ataxia with characteristic antibodies ORPHA:624259
- Steroid-responsive encephalopathy associated with autoimmune thyroiditis ORPHA:83601
- Superficial siderosis ORPHA:247245
- Rare movement disorder ORPHA:102003
- Stiff person spectrum disorder ORPHA:3198
- Progressive encephalomyelitis with rigidity and myoclonus ORPHA:438266
- Classic stiff person syndrome ORPHA:443192
- Focal stiff limb syndrome ORPHA:443804
- Rare parkinsonian disorder ORPHA:68402
- Rapid-onset dystonia-parkinsonism ORPHA:71517
- Rare parkinsonian syndrome due to neurodegenerative disease ORPHA:306666
- Young-onset Parkinson disease ORPHA:2828
- Early-onset parkinsonism-intellectual disability syndrome ORPHA:2379
- X-linked dystonia-parkinsonism ORPHA:53351
- Primary progressive freezing gait ORPHA:75567
- Encephalitis lethargica ORPHA:83600
- Postencephalitic parkinsonism ORPHA:97349
- Caribbean parkinsonism ORPHA:97355
- Multiple system atrophy, parkinsonian type ORPHA:98933
- Parkinsonian-pyramidal syndrome ORPHA:171695
- Perry syndrome ORPHA:178509
- Adult-onset dystonia-parkinsonism ORPHA:199351
- Dystonia 16 ORPHA:210571
- Autosomal dominant striatal neurodegeneration ORPHA:228169
- Infantile dystonia-parkinsonism ORPHA:238455
- Hemiparkinsonism-hemiatrophy syndrome ORPHA:306669
- Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome ORPHA:309854
- ATP13A2-related parkinsonism ORPHA:514980
- X-linked parkinsonism-spasticity syndrome ORPHA:363654
- Atypical juvenile parkinsonism ORPHA:391411
- Hereditary late-onset Parkinson disease ORPHA:411602
- Bilateral striopallidodentate calcinosis ORPHA:1980
- Progressive supranuclear palsy-predominant parkinsonism syndrome ORPHA:240085
- Parkinsonism with polyneuropathy ORPHA:611237
- Corticobasal syndrome ORPHA:454887
- Rare parkinsonian syndrome due to intoxication ORPHA:306679
- Manganese poisoning ORPHA:306682
- Delayed encephalopathy due to carbon monoxide poisoning ORPHA:306686
- Cyanide-induced parkinsonism-dystonia ORPHA:306692
- Off-periods in Parkinson disease not responding to oral treatment ORPHA:391655
- Psychogenic movement disorders ORPHA:71519
- Familial congenital mirror movements ORPHA:238722
- Miscellaneous movement disorder due to neurodegenerative disease ORPHA:306695
- Neurodegeneration with brain iron accumulation ORPHA:385
- Woodhouse-Sakati syndrome ORPHA:3464
- Aceruloplasminemia ORPHA:48818
- Neuroferritinopathy ORPHA:157846
- Pantothenate kinase-associated neurodegeneration ORPHA:157850
- Classic pantothenate kinase-associated neurodegeneration ORPHA:216866
- Atypical pantothenate kinase-associated neurodegeneration ORPHA:216873
- Mitochondrial membrane protein-associated neurodegeneration ORPHA:289560
- Kufor-Rakeb syndrome ORPHA:306674
- Beta-propeller protein-associated neurodegeneration ORPHA:329284
- PLA2G6-associated neurodegeneration ORPHA:329303
- Fatty acid hydroxylase-associated neurodegeneration ORPHA:329308
- COASY protein-associated neurodegeneration ORPHA:397725
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome ORPHA:496756
- Sporadic Creutzfeldt-Jakob disease ORPHA:204
- Neuronal intranuclear inclusion disease ORPHA:2289
- Infantile bilateral striatal necrosis ORPHA:1576
- Sporadic infantile bilateral striatal necrosis ORPHA:225147
- Familial infantile bilateral striatal necrosis ORPHA:225154
- Multiple system atrophy ORPHA:102
- Multiple system atrophy, parkinsonian type ORPHA:98933
- Multiple system atrophy, cerebellar type ORPHA:227510
- Spinocerebellar ataxia type 17 ORPHA:98759
- Huntington disease-like 3 ORPHA:157946
- Neuroacanthocytosis ORPHA:263440
- Choreoacanthocytosis ORPHA:2388
- McLeod neuroacanthocytosis syndrome ORPHA:59306
- Huntington disease-like 2 ORPHA:98934
- Pantothenate kinase-associated neurodegeneration ORPHA:157850
- Inherited Creutzfeldt-Jakob disease ORPHA:282166
- Frontotemporal neurodegeneration with movement disorder ORPHA:306708
- Progressive supranuclear palsy ORPHA:683
- Atypical progressive supranuclear palsy syndrome ORPHA:99750
- Progressive supranuclear palsy-predominant parkinsonism syndrome ORPHA:240085
- Progressive supranuclear palsy-pure akinesia with gait freezing syndrome ORPHA:240094
- Progressive supranuclear palsy-corticobasal syndrome ORPHA:240103
- Progressive supranuclear palsy-progressive non-fluent aphasia syndrome ORPHA:240112
- Classic progressive supranuclear palsy syndrome ORPHA:240071
- Corticobasal syndrome ORPHA:454887
- Progressive non-fluent aphasia ORPHA:100070
- Behavioral variant of frontotemporal dementia ORPHA:275864
- Frontotemporal dementia with motor neuron disease ORPHA:275872
- Proximal myopathy with extrapyramidal signs ORPHA:401768
- Acquired Creutzfeldt-Jakob disease ORPHA:454700
- Kuru ORPHA:454745
- Variably protease-sensitive prionopathy ORPHA:454742
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder ORPHA:500180
- Rare paroxysmal movement disorder ORPHA:306768
- Benign paroxysmal tonic upgaze of childhood with ataxia ORPHA:1179
- Sandifer syndrome ORPHA:71272
- Paroxysmal dystonia ORPHA:200037
- Paroxysmal dyskinesia ORPHA:1431
- Infantile convulsions and choreoathetosis ORPHA:31709
- Paroxysmal kinesigenic dyskinesia ORPHA:98809
- Paroxysmal non-kinesigenic dyskinesia ORPHA:98810
- Paroxysmal exertion-induced dyskinesia ORPHA:98811
- Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity ORPHA:53583
- Benign paroxysmal torticollis of infancy ORPHA:71518
- Familial dyskinesia and facial myokymia ORPHA:324588
- Hyperekplexia ORPHA:306773
- Hereditary hyperekplexia ORPHA:3197
- Hyperekplexia-epilepsy syndrome ORPHA:163985
- Sporadic hyperekplexia ORPHA:306776
- Painful legs and moving toes syndrome ORPHA:617440
- Rare hyperkinetic movement disorder ORPHA:494457
- Rare dystonia ORPHA:68363
- Combined dystonia ORPHA:98203
- Paroxysmal dystonia ORPHA:200037
- Paroxysmal dyskinesia ORPHA:1431
- Infantile convulsions and choreoathetosis ORPHA:31709
- Paroxysmal kinesigenic dyskinesia ORPHA:98809
- Paroxysmal non-kinesigenic dyskinesia ORPHA:98810
- Paroxysmal exertion-induced dyskinesia ORPHA:98811
- Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity ORPHA:53583
- Benign paroxysmal torticollis of infancy ORPHA:71518
- Persistent combined dystonia ORPHA:391711
- Dystonia-parkinsonism-hypermanganesemia syndrome ORPHA:521406
- Dopa-responsive dystonia ORPHA:255
- Autosomal recessive dopa-responsive dystonia ORPHA:101150
- Dopa-responsive dystonia due to sepiapterin reductase deficiency ORPHA:70594
- Autosomal dominant dopa-responsive dystonia ORPHA:98808
- Myoclonus-dystonia syndrome ORPHA:36899
- X-linked dystonia-parkinsonism ORPHA:53351
- Rapid-onset dystonia-parkinsonism ORPHA:71517
- Adult-onset dystonia-parkinsonism ORPHA:199351
- Dystonia 16 ORPHA:210571
- Infantile dystonia-parkinsonism ORPHA:238455
- Brain dopamine-serotonin vesicular transport disease ORPHA:352649
- Infantile epileptic-dyskinetic encephalopathy ORPHA:364063
- Ataxia-telangiectasia variant ORPHA:370109
- Dystonia-aphonia syndrome ORPHA:412217
- MEPAN syndrome ORPHA:508093
- Hyperphenylalaninemia due to DNAJC12 deficiency ORPHA:508523
- Dystonia 28 ORPHA:589618
- Isolated dystonia ORPHA:156159
- Focal, segmental or multifocal dystonia ORPHA:1866
- Oromandibular dystonia ORPHA:93958
- Blepharospasm-oromandibular dystonia syndrome ORPHA:93964
- Primary dystonia, DYT4 type ORPHA:98805
- Primary dystonia, DYT13 type ORPHA:98807
- Primary dystonia, DYT2 type ORPHA:99657
- Autosomal dominant focal dystonia, DYT25 type ORPHA:329466
- Primary dystonia, DYT17 type ORPHA:370103
- Cranio-cervical dystonia with laryngeal and upper-limb involvement ORPHA:420485
- Adult-onset cervical dystonia, DYT23 type ORPHA:420492
- Primary dystonia, DYT27 type ORPHA:464440
- Infantile-onset generalized dyskinesia with orofacial involvement ORPHA:494526
- Generalized isolated dystonia ORPHA:376724
- Hemidystonia-hemiatrophy syndrome ORPHA:306741
- Rare disorder with dystonia and other neurologic or systemic manifestation ORPHA:370106
- Wilson disease ORPHA:905
- Woodhouse-Sakati syndrome ORPHA:3464
- Developmental malformations-deafness-dystonia syndrome ORPHA:79107
- Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ORPHA:369939
- Childhood-onset basal ganglia degeneration syndrome ORPHA:497906
- Ataxia-oculomotor apraxia type 4 ORPHA:459033
- IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome ORPHA:597623
- Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome ORPHA:660017
- Rare tremor disorder ORPHA:306712
- Wilson disease ORPHA:905
- Tremor-nystagmus-duodenal ulcer syndrome ORPHA:3350
- Hereditary geniospasm ORPHA:53372
- Sensorineural hearing loss-early graying-essential tremor syndrome ORPHA:66633
- Fragile X-associated tremor/ataxia syndrome ORPHA:93256
- Primary orthostatic tremor ORPHA:238606
- Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome ORPHA:457212
- Rare choreic movement disorder ORPHA:306715
- Neurodegenerative disease with chorea ORPHA:306719
- Childhood-onset benign chorea with striatal involvement ORPHA:494541
- Huntington disease ORPHA:399
- Benign hereditary chorea ORPHA:1429
- Huntington disease-like 1 ORPHA:157941
- Brain-lung-thyroid syndrome ORPHA:209905
- Juvenile Huntington disease ORPHA:248111
- Huntington disease-like syndrome due to C9ORF72 expansions ORPHA:401901
- Postinfectious autoimmune disease with chorea ORPHA:306727
- Intellectual disability-hyperkinetic movement-truncal ataxia syndrome ORPHA:369847
- Rare myoclonus ORPHA:306747
- Primary myoclonus ORPHA:306750
- Myoclonus-dystonia syndrome ORPHA:36899
- Familial adult myoclonic epilepsy ORPHA:86814
- Familial cortical myoclonus ORPHA:319189
- Hemifacial spasm ORPHA:221083
- Rare disease with myoclonus as a major feature ORPHA:306753
- Whipple disease ORPHA:3452
- Opsoclonus-myoclonus syndrome ORPHA:1183
- Epilepsy and/or ataxia with myoclonus as a major feature ORPHA:306756
- Non progressive epilepsy and/or ataxia with myoclonus as a major feature ORPHA:306759
- Progressive myoclonic epilepsy ORPHA:98261
- MERRF ORPHA:551
- Lafora disease ORPHA:501
- Progressive myoclonic epilepsy type 1 ORPHA:308
- Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947
- CLN3 disease ORPHA:228346
- CLN4 disease ORPHA:228343
- CLN5 disease ORPHA:228360
- Familial encephalopathy with neuroserpin inclusion bodies ORPHA:85110
- Progressive dementia with neuroserpin inclusion bodies ORPHA:530303
- Progressive myoclonic epilepsy with neuroserpin inclusion bodies ORPHA:530298
- CLN1 disease ORPHA:228329
- CLN2 disease ORPHA:228349
- Progressive myoclonic epilepsy type 6 ORPHA:280620
- PRDM8-related progressive myoclonus epilepsy ORPHA:324290
- Progressive myoclonic epilepsy type 5 ORPHA:402082
- Progressive myoclonic epilepsy type 8 ORPHA:424027
- Progressive myoclonic epilepsy type 7 ORPHA:435438
- CLN6 disease ORPHA:228363
- CLN7 disease ORPHA:228366
- CLN8 disease ORPHA:228354
- CLN10 disease ORPHA:228337
- CLN13 disease ORPHA:352709
- Progressive myoclonic epilepsy type 3 ORPHA:263516
- Progressive myoclonic epilepsy type 9 ORPHA:457265
- CLN11 disease ORPHA:314629
- Spinal muscular atrophy-progressive myoclonic epilepsy syndrome ORPHA:2590
- Motor stereotypies ORPHA:306765
- FOXG1 syndrome ORPHA:561854
- FOXG1 syndrome due to intragenic alteration ORPHA:598164
- FOXG1 syndrome due to 14q12 microdeletion ORPHA:261144
- CDKL5-deficiency disorder ORPHA:505652
- Rett syndrome ORPHA:778
- Fragile X syndrome ORPHA:908
- Williams syndrome ORPHA:904
- Atypical Rett syndrome ORPHA:3095
- Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome ORPHA:522077
- GNAO1-related developmental delay-seizures-movement disorder spectrum ORPHA:592564
- Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome ORPHA:684240
- Arachnoiditis ORPHA:137817
- Neonatal brainstem dysfunction ORPHA:137929
- Brain calcification, Rajab type ORPHA:178506
- Rare neuroinflammatory or neuroimmunological disease ORPHA:182064
- Isolated optic neuritis ORPHA:499096
- Chronic relapsing inflammatory optic neuritis ORPHA:499085
- Relapsing isolated optic neuritis ORPHA:659634
- Single isolated optic neuritis ORPHA:659626
- Guillain-Barré syndrome ORPHA:2103
- Acute inflammatory demyelinating polyradiculoneuropathy ORPHA:98916
- Acute motor and sensory axonal neuropathy ORPHA:98917
- Acute motor axonal neuropathy ORPHA:98918
- Variant of Guillain-Barré syndrome ORPHA:231413
- Regional variant of Guillain-Barré syndrome ORPHA:231416
- Bickerstaff brainstem encephalitis ORPHA:79138
- Miller Fisher syndrome ORPHA:98919
- Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome ORPHA:231426
- Facial diplegia with paresthesias ORPHA:480701
- Functional variant of Guillain-Barré syndrome ORPHA:231419
- Stiff person spectrum disorder ORPHA:3198
- Progressive encephalomyelitis with rigidity and myoclonus ORPHA:438266
- Classic stiff person syndrome ORPHA:443192
- Focal stiff limb syndrome ORPHA:443804
- Chronic inflammatory demyelinating polyneuropathy ORPHA:2932
- Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG ORPHA:639
- Vogt-Koyanagi-Harada disease ORPHA:3437
- CANOMAD syndrome ORPHA:71279
- Brain inflammatory disease ORPHA:102005
- Familial hemophagocytic lymphohistiocytosis ORPHA:540
- Progressive hemifacial atrophy ORPHA:1214
- Opsoclonus-myoclonus syndrome ORPHA:1183
- Griscelli syndrome type 1 ORPHA:79476
- Encephalitis ORPHA:97275
- Autoimmune encephalitis ORPHA:622014
- Paraneoplastic isolated brainstem encephalitis ORPHA:624190
- NMDA receptor encephalitis ORPHA:217253
- Bickerstaff brainstem encephalitis ORPHA:79138
- Acute disseminated encephalomyelitis ORPHA:83597
- Acute disseminated encephalomyelitis with anti-MOG antibodies ORPHA:592894
- Acute disseminated encephalomyelitis without anti-MOG antibodies ORPHA:592900
- Steroid-responsive encephalopathy associated with autoimmune thyroiditis ORPHA:83601
- Autoimmune limbic encephalitis ORPHA:623615
- Immune-mediated cerebellar ataxia ORPHA:623638
- Non-specific autoimmune cerebellar ataxia without characteristic antibodies ORPHA:624268
- Paraneoplastic cerebellar degeneration ORPHA:623626
- Postinfectious cerebellitis ORPHA:624244
- Non-specific autoimmune cerebellar ataxia with characteristic antibodies ORPHA:624259
- Non-specific autoimmune supratentorial encephalitis with characteristic antibodies ORPHA:624166
- Non-specific autoimmune supratentorial encephalitis without characteristic antibodies ORPHA:624178
- Non-specific autoimmune brainstem encephalitis with characteristic antibodies ORPHA:624199
- Non-specific autoimmune brainstem encephalitis without characteristic antibodies ORPHA:624216
- Posttransplant acute limbic encephalitis ORPHA:163921
- Infectious encephalitis ORPHA:98252
- Chikungunya ORPHA:324625
- Herpes simplex virus encephalitis ORPHA:1930
- Tick-borne encephalitis ORPHA:297
- Japanese encephalitis ORPHA:79139
- West-Nile encephalitis ORPHA:83476
- Mycoplasma encephalitis ORPHA:83482
- La Crosse encephalitis ORPHA:83483
- St. Louis encephalitis ORPHA:83484
- Western equine encephalitis ORPHA:83593
- Eastern equine encephalitis ORPHA:83594
- Colorado tick fever ORPHA:83595
- Rubella panencephalitis ORPHA:83616
- Nipah virus disease ORPHA:99825
- Progressive multifocal leukoencephalopathy ORPHA:217260
- Acute necrotizing encephalopathy of childhood ORPHA:263524
- Hendra virus infection ORPHA:324632
- Borna virus encephalitis ORPHA:637051
- Chronic encephalitis ORPHA:98255
- Fatal post-viral neurodegenerative disorder ORPHA:391343
- Postinfectious vasculitis ORPHA:48435
- IgG4-related pachymeningitis ORPHA:449427
- Multiple sclerosis variant ORPHA:228145
- Schilder disease ORPHA:59298
- Neuromyelitis optica spectrum disorder ORPHA:71211
- Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies ORPHA:592850
- Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies ORPHA:592869
- Neuromyelitis optica spectrum disorder with anti-MOG antibodies ORPHA:592856
- Acute disseminated encephalomyelitis ORPHA:83597
- Acute disseminated encephalomyelitis with anti-MOG antibodies ORPHA:592894
- Acute disseminated encephalomyelitis without anti-MOG antibodies ORPHA:592900
- Marburg acute multiple sclerosis ORPHA:228157
- Baló concentric sclerosis ORPHA:228165
- Pediatric multiple sclerosis ORPHA:477738
- CLIPPERS ORPHA:284448
- Rare neurodegenerative disease ORPHA:182070
- Early-onset calcifying leukoencephalopathy-skeletal dysplasia ORPHA:556985
- CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome ORPHA:610573
- Multiple mitochondrial dysfunctions syndrome type 5 ORPHA:569274
- Hypertrophic olivary degeneration ORPHA:684290
- Fibrosis-neurodegeneration-cerebral angiomatosis syndrome ORPHA:621758
- Multiple mitochondrial dysfunctions syndrome type 6 ORPHA:569290
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ORPHA:496641
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome ORPHA:480864
- Combined oxidative phosphorylation defect type 29 ORPHA:478029
- Alexander disease ORPHA:58
- Canavan disease ORPHA:141
- Krabbe disease ORPHA:487
- Late-infantile/juvenile Krabbe disease ORPHA:206443
- Adult Krabbe disease ORPHA:206448
- Infantile Krabbe disease ORPHA:206436
- Amyotrophic lateral sclerosis ORPHA:803
- Kennedy disease ORPHA:481
- Chédiak-Higashi syndrome ORPHA:167
- 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
- Neuronal ceroid lipofuscinosis ORPHA:216
- Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947
- CLN1 disease ORPHA:228329
- CLN2 disease ORPHA:228349
- CLN3 disease ORPHA:228346
- CLN4 disease ORPHA:228343
- CLN12 disease ORPHA:314632
- CLN11 disease ORPHA:314629
- CLN5 disease ORPHA:228360
- CLN6 disease ORPHA:228363
- CLN7 disease ORPHA:228366
- CLN8 disease ORPHA:228354
- CLN13 disease ORPHA:352709
- CLN10 disease ORPHA:228337
- Hereditary spastic paraplegia ORPHA:685
- Pure hereditary spastic paraplegia ORPHA:102012
- Autosomal dominant pure spastic paraplegia ORPHA:100980
- Autosomal dominant spastic paraplegia type 12 ORPHA:100993
- Autosomal dominant spastic paraplegia type 19 ORPHA:100999
- Autosomal dominant spastic paraplegia type 37 ORPHA:171612
- Autosomal dominant spastic paraplegia type 42 ORPHA:171863
- Autosomal dominant spastic paraplegia type 41 ORPHA:320355
- Autosomal spastic paraplegia type 72 ORPHA:401849
- Autosomal dominant spastic paraplegia type 73 ORPHA:444099
- IFIH1-related hereditary spastic paraplegia ORPHA:689231
- Autosomal dominant spastic paraplegia type 80 ORPHA:631068
- Autosomal recessive pure spastic paraplegia ORPHA:100982
- Autosomal recessive spastic paraplegia type 24 ORPHA:101004
- Autosomal recessive spastic paraplegia type 28 ORPHA:101008
- Autosomal recessive spastic paraplegia type 62 ORPHA:401785
- Autosomal recessive spastic paraplegia type 71 ORPHA:401840
- Autosomal spastic paraplegia type 72 ORPHA:401849
- Autosomal recessive spastic paraplegia type 83 ORPHA:631076
- RNASEH2B-related hereditary spastic paraplegia ORPHA:689234
- X-linked pure spastic paraplegia ORPHA:320332
- Complex hereditary spastic paraplegia ORPHA:102013
- X-linked complex spastic paraplegia ORPHA:98888
- Autosomal dominant complex spastic paraplegia ORPHA:100979
- Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome ORPHA:521390
- Autosomal dominant spastic paraplegia type 9A ORPHA:447753
- Spastic paraplegia-facial-cutaneous lesions syndrome ORPHA:2819
- Spastic paraplegia-nephritis-deafness syndrome ORPHA:2820
- Spastic paraplegia-neuropathy-poikiloderma syndrome ORPHA:2821
- Spastic paraplegia-precocious puberty syndrome ORPHA:2826
- Autosomal dominant spastic paraplegia type 17 ORPHA:100998
- Autosomal dominant spastic paraplegia type 29 ORPHA:101009
- Autosomal dominant spastic paraplegia type 38 ORPHA:171617
- Autosomal dominant spastic paraplegia type 36 ORPHA:320365
- Spastic paraplegia-Paget disease of bone syndrome ORPHA:329475
- Spastic paraparesis-cataracts-speech delay syndrome ORPHA:615938
- Autosomal recessive complex spastic paraplegia ORPHA:100981
- Spastic paraplegia-severe developmental delay-epilepsy syndrome ORPHA:464282
- Autosomal recessive spastic paraplegia type 75 ORPHA:459056
- Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome ORPHA:477673
- Spastic paraplegia-glaucoma-intellectual disability syndrome ORPHA:2818
- Autosomal recessive spastic paraplegia type 15 ORPHA:100996
- Autosomal recessive spastic paraplegia type 20 ORPHA:101000
- Autosomal recessive spastic paraplegia type 23 ORPHA:101003
- Autosomal recessive spastic paraplegia type 25 ORPHA:101005
- Autosomal recessive spastic paraplegia type 26 ORPHA:101006
- Autosomal recessive spastic paraplegia type 39 ORPHA:139480
- Mutilating hereditary sensory neuropathy with spastic paraplegia ORPHA:139578
- Autosomal recessive spastic paraplegia type 32 ORPHA:171622
- Severe intellectual disability and progressive spastic paraplegia ORPHA:280763
- Autosomal recessive spastic paraplegia type 53 ORPHA:319199
- Autosomal recessive spastic paraplegia type 43 ORPHA:320370
- Autosomal recessive spastic paraplegia type 54 ORPHA:320380
- Hereditary sensory and autonomic neuropathy due to TECPR2 mutation ORPHA:320385
- Autosomal recessive spastic paraplegia type 46 ORPHA:320391
- Autosomal recessive spastic paraplegia type 44 ORPHA:320401
- Autosomal spastic paraplegia type 58 ORPHA:397946
- Autosomal recessive spastic paraplegia type 61 ORPHA:401780
- Autosomal recessive spastic paraplegia type 59 ORPHA:401795
- Autosomal recessive spastic paraplegia type 60 ORPHA:401800
- Autosomal recessive spastic paraplegia type 63 ORPHA:401805
- Autosomal recessive spastic paraplegia type 64 ORPHA:401810
- Autosomal recessive spastic paraplegia type 66 ORPHA:401815
- Autosomal recessive spastic paraplegia type 67 ORPHA:401820
- Autosomal recessive spastic paraplegia type 69 ORPHA:401830
- Autosomal recessive spastic paraplegia type 70 ORPHA:401835
- Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder ORPHA:431320
- Spastic paraplegia-optic atrophy-neuropathy syndrome ORPHA:320406
- Autosomal recessive spastic paraplegia type 57 ORPHA:431329
- Autosomal recessive spastic paraplegia type 74 ORPHA:468661
- Autosomal recessive spastic paraplegia type 55 ORPHA:320375
- Autosomal recessive spastic paraplegia type 9B ORPHA:447760
- Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction ORPHA:506353
- Autosomal recessive spastic paraplegia type 21 ORPHA:101001
- Autosomal recessive spastic paraplegia type 35 ORPHA:171629
- Fatty acid hydroxylase-associated neurodegeneration ORPHA:329308
- Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome ORPHA:496689
- Autosomal recessive spastic paraplegia type 76 ORPHA:488594
- Autosomal recessive spastic paraplegia type 82 ORPHA:631073
- Autosomal recessive spastic paraplegia type 84 ORPHA:631079
- Autosomal recessive spastic paraplegia type 78 ORPHA:513436
- Autosomal recessive spastic paraplegia type 85 ORPHA:631082
- Autosomal recessive spastic paraplegia type 86 ORPHA:631085
- MT-ATP6-related mitochondrial spastic paraplegia ORPHA:320360
- Pure or complex hereditary spastic paraplegia ORPHA:320335
- Pure or complex autosomal dominant spastic paraplegia ORPHA:320342
- Autosomal spastic paraplegia type 30 ORPHA:101010
- Autosomal spastic paraplegia type 18 ORPHA:209951
- Autosomal dominant spastic paraplegia type 3 ORPHA:100984
- Autosomal dominant spastic paraplegia type 4 ORPHA:100985
- Autosomal dominant spastic paraplegia type 6 ORPHA:100988
- Autosomal dominant spastic paraplegia type 10 ORPHA:100991
- Autosomal dominant spastic paraplegia type 13 ORPHA:100994
- Autosomal dominant spastic paraplegia type 31 ORPHA:101011
- Autosomal dominant spastic paraplegia type 9B ORPHA:447757
- Autosomal dominant spastic paraplegia type 8 ORPHA:100989
- Spastic paraplegia type 7 ORPHA:99013
- Pure or complex autosomal recessive spastic paraplegia ORPHA:320346
- Autosomal recessive spastic paraplegia type 87 ORPHA:631088
- Macrocephaly-spastic paraplegia-dysmorphism syndrome ORPHA:2429
- Autosomal recessive spastic paraplegia type 11 ORPHA:2822
- Spastic paraplegia type 7 ORPHA:99013
- Autosomal recessive spastic paraplegia type 5A ORPHA:100986
- Autosomal recessive spastic paraplegia type 14 ORPHA:100995
- Autosomal spastic paraplegia type 30 ORPHA:101010
- Autosomal recessive spastic paraplegia type 45 ORPHA:320396
- Autosomal recessive spastic paraplegia type 48 ORPHA:306511
- Autosomal recessive spastic paraplegia type 56 ORPHA:320411
- Autosomal recessive spastic paraplegia type 77 ORPHA:466722
- Autosomal recessive spastic paraplegia type 27 ORPHA:101007
- Pure or complex X-linked spastic paraplegia ORPHA:320350
- Pelizaeus-Merzbacher disease ORPHA:702
- Pelizaeus-Merzbacher disease, connatal form ORPHA:280210
- Pelizaeus-Merzbacher disease, classic form ORPHA:280219
- Pelizaeus-Merzbacher disease, transitional form ORPHA:280224
- Pelizaeus-Merzbacher disease in female carriers ORPHA:280229
- Null syndrome ORPHA:280234
- X-linked adrenoleukodystrophy ORPHA:43
- Niemann-Pick disease type C ORPHA:646
- Niemann-Pick disease type C, severe perinatal form ORPHA:216972
- Niemann-Pick disease type C, severe early infantile neurologic onset ORPHA:216975
- Niemann-Pick disease type C, late infantile neurologic onset ORPHA:216978
- Niemann-Pick disease type C, juvenile neurologic onset ORPHA:216981
- Niemann-Pick disease type C, adult neurologic onset ORPHA:216986
- Alpers-Huttenlocher syndrome ORPHA:726
- Neuronal intranuclear inclusion disease ORPHA:2289
- PEHO syndrome ORPHA:2836
- Primary lateral sclerosis ORPHA:35689
- Mohr-Tranebjaerg syndrome ORPHA:52368
- Posterior cortical atrophy ORPHA:54247
- Microphthalmia-brain atrophy syndrome ORPHA:77299
- Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome ORPHA:83629
- Facial onset sensory and motor neuronopathy ORPHA:85162
- X-linked neurodegenerative syndrome, Bertini type ORPHA:85334
- X-linked neurodegenerative syndrome, Hamel type ORPHA:85336
- Neurodegenerative disease with dementia ORPHA:98534
- Huntington disease ORPHA:399
- Early-onset autosomal dominant Alzheimer disease ORPHA:1020
- Parkinson-dementia complex of Guam ORPHA:90020
- Primary progressive aphasia ORPHA:95432
- Semantic dementia ORPHA:100069
- Progressive non-fluent aphasia ORPHA:100070
- Logopenic progressive aphasia ORPHA:250831
- Frontotemporal degeneration with dementia ORPHA:98535
- Progressive supranuclear palsy ORPHA:683
- Atypical progressive supranuclear palsy syndrome ORPHA:99750
- Progressive supranuclear palsy-predominant parkinsonism syndrome ORPHA:240085
- Progressive supranuclear palsy-pure akinesia with gait freezing syndrome ORPHA:240094
- Progressive supranuclear palsy-corticobasal syndrome ORPHA:240103
- Progressive supranuclear palsy-progressive non-fluent aphasia syndrome ORPHA:240112
- Classic progressive supranuclear palsy syndrome ORPHA:240071
- Frontotemporal dementia ORPHA:282
- Semantic dementia ORPHA:100069
- Progressive non-fluent aphasia ORPHA:100070
- Behavioral variant of frontotemporal dementia ORPHA:275864
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia ORPHA:52430
- Frontotemporal dementia with motor neuron disease ORPHA:275872
- Corticobasal syndrome ORPHA:454887
- Ataxia with dementia ORPHA:98538
- Early-onset ataxia with dementia ORPHA:98539
- Autosomal recessive cerebellar ataxia ORPHA:1172
- Autosomal recessive ataxia, Beauce type ORPHA:88644
- Autosomal recessive congenital cerebellar ataxia ORPHA:98095
- Autosomal recessive cerebelloparenchymal disorder type 3 ORPHA:1170
- Dysequilibrium syndrome ORPHA:1766
- CAMOS syndrome ORPHA:83472
- Cerebellar ataxia, Cayman type ORPHA:94122
- Joubert syndrome and related disorders ORPHA:140874
- Joubert syndrome with oculorenal defect ORPHA:2318
- Joubert syndrome ORPHA:475
- Joubert syndrome with hepatic defect ORPHA:1454
- Orofaciodigital syndrome type 6 ORPHA:2754
- Joubert syndrome with ocular defect ORPHA:220493
- Joubert syndrome with renal defect ORPHA:220497
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy ORPHA:397715
- Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency ORPHA:453521
- Congenital cerebellar ataxia due to RNU12 mutation ORPHA:512260
- Autosomal recessive metabolic cerebellar ataxia ORPHA:98096
- Autosomal recessive ataxia due to PEX2 deficiency ORPHA:642965
- Ataxia with vitamin E deficiency ORPHA:96
- Abetalipoproteinemia ORPHA:14
- Refsum disease ORPHA:773
- Cerebrotendinous xanthomatosis ORPHA:909
- Infantile Refsum disease ORPHA:772
- Recessive mitochondrial ataxia syndrome ORPHA:94125
- Autosomal recessive ataxia due to PEX10 deficiency ORPHA:247815
- Autosomal recessive cerebellar ataxia with late-onset spasticity ORPHA:352641
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome ORPHA:363429
- Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency ORPHA:324262
- Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency ORPHA:363432
- Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome ORPHA:95433
- Autosomal recessive ataxia due to PEX16 deficiency ORPHA:642954
- Autosomal recessive cerebellar ataxia due to a DNA repair defect ORPHA:98097
- Ataxia-telangiectasia ORPHA:100
- Ataxia-oculomotor apraxia type 1 ORPHA:1168
- Spinocerebellar ataxia with axonal neuropathy type 2 ORPHA:64753
- Spinocerebellar ataxia with axonal neuropathy type 1 ORPHA:94124
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Ataxia-telangiectasia-like disorder ORPHA:251347
- Xeroderma pigmentosum ORPHA:910
- RIDDLE syndrome ORPHA:420741
- Autosomal recessive degenerative and progressive cerebellar ataxia ORPHA:98098
- Friedreich ataxia ORPHA:95
- Early-onset cerebellar ataxia with retained tendon reflexes ORPHA:1177
- Infantile-onset spinocerebellar ataxia ORPHA:1186
- Marinesco-Sjögren syndrome ORPHA:559
- Congenital cataracts-facial dysmorphism-neuropathy syndrome ORPHA:48431
- Posterior column ataxia-retinitis pigmentosa syndrome ORPHA:88628
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome ORPHA:496756
- Autosomal recessive syndromic cerebellar ataxia ORPHA:98099
- Autosomal recessive cerebellar ataxia-movement disorder syndrome ORPHA:95434
- Autosomal recessive cerebellar ataxia-psychomotor delay syndrome ORPHA:284271
- Ataxia-oculomotor apraxia type 4 ORPHA:459033
- Gemignani syndrome ORPHA:2074
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome ORPHA:504476
- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome ORPHA:466794
- Autosomal recessive ataxia due to ubiquinone deficiency ORPHA:139485
- Adult-onset autosomal recessive cerebellar ataxia ORPHA:284289
- Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia ORPHA:284324
- Infantile-onset autosomal recessive nonprogressive cerebellar ataxia ORPHA:284332
- Spectrin-associated autosomal recessive cerebellar ataxia ORPHA:352403
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome ORPHA:404481
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency ORPHA:284282
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency ORPHA:404493
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency ORPHA:404499
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency ORPHA:412057
- Late-onset ataxia with dementia ORPHA:98540
- Autosomal dominant cerebellar ataxia ORPHA:99
- Autosomal dominant cerebellar ataxia type I ORPHA:94145
- Spinocerebellar ataxia type 19/22 ORPHA:98772
- Spinocerebellar ataxia type 21 ORPHA:98773
- Spinocerebellar ataxia type 23 ORPHA:101108
- Spinocerebellar ataxia type 28 ORPHA:101109
- Spinocerebellar ataxia type 20 ORPHA:101110
- Spinocerebellar ataxia type 25 ORPHA:101111
- Spinocerebellar ataxia type 29 ORPHA:208513
- Spinocerebellar ataxia type 32 ORPHA:276183
- Spinocerebellar ataxia type 35 ORPHA:276193
- Spinocerebellar ataxia type 36 ORPHA:276198
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome ORPHA:314404
- Non-progressive cerebellar ataxia with intellectual disability ORPHA:314647
- Spinocerebellar ataxia type 37 ORPHA:363710
- Spinocerebellar ataxia type 40 ORPHA:423275
- Spinocerebellar ataxia type 34 ORPHA:1955
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ORPHA:1171
- Spinocerebellar ataxia type 1 ORPHA:98755
- Spinocerebellar ataxia type 2 ORPHA:98756
- Spinocerebellar ataxia type 3 ORPHA:98757
- Machado-Joseph disease type 1 ORPHA:276238
- Machado-Joseph disease type 2 ORPHA:276241
- Machado-Joseph disease type 3 ORPHA:276244
- Spinocerebellar ataxia type 17 ORPHA:98759
- Spinocerebellar ataxia type 8 ORPHA:98760
- Spinocerebellar ataxia type 12 ORPHA:98762
- Spinocerebellar ataxia type 14 ORPHA:98763
- Spinocerebellar ataxia type 27A ORPHA:98764
- Spinocerebellar ataxia type 4 ORPHA:98765
- Spinocerebellar ataxia type 13 ORPHA:98768
- Spinocerebellar ataxia type 15/16 ORPHA:98769
- Spinocerebellar ataxia type 18 ORPHA:98771
- Spinocerebellar ataxia type 43 ORPHA:497764
- PUM1-associated developmental disability-ataxia-seizure syndrome ORPHA:589515
- Spinocerebellar ataxia type 46 ORPHA:589522
- Spinocerebellar ataxia type 48 ORPHA:631103
- Spinocerebellar ataxia type 27B ORPHA:675216
- Spinocerebellar ataxia type 49 ORPHA:631106
- Autosomal dominant cerebellar ataxia type III ORPHA:94148
- Spinocerebellar ataxia type 45 ORPHA:589527
- Spinocerebellar ataxia type 44 ORPHA:631095
- Spinocerebellar ataxia type 6 ORPHA:98758
- Spinocerebellar ataxia type 5 ORPHA:98766
- Spinocerebellar ataxia type 11 ORPHA:98767
- Spinocerebellar ataxia type 26 ORPHA:101112
- Spinocerebellar ataxia type 30 ORPHA:211017
- Spinocerebellar ataxia type 31 ORPHA:217012
- Spinocerebellar ataxia type 38 ORPHA:423296
- Spinocerebellar ataxia type 41 ORPHA:458798
- Spinocerebellar ataxia type 42 ORPHA:458803
- Autosomal dominant cerebellar ataxia type IV ORPHA:94149
- Autosomal dominant cerebellar ataxia type II ORPHA:208508
- PUM1-related cerebellar ataxia ORPHA:642747
- Juvenile Huntington disease ORPHA:248111
- Huntington disease-like syndrome due to C9ORF72 expansions ORPHA:401901
- PRKAR1B-related neurodegenerative dementia with intermediate filaments ORPHA:412066
- ITM2B amyloidosis ORPHA:439254
- Nasu-Hakola disease ORPHA:2770
- Human prion disease ORPHA:56970
- Inherited human prion disease ORPHA:280400
- Gerstmann-Straussler-Scheinker syndrome ORPHA:356
- Fatal familial insomnia ORPHA:466
- Huntington disease-like 1 ORPHA:157941
- Familial Alzheimer-like prion disease ORPHA:280397
- Inherited Creutzfeldt-Jakob disease ORPHA:282166
- PrP systemic amyloidosis ORPHA:397606
- Sporadic human prion disease ORPHA:576356
- Sporadic Creutzfeldt-Jakob disease ORPHA:204
- Variably protease-sensitive prionopathy ORPHA:454742
- Sporadic fatal insomnia ORPHA:586130
- Acquired human prion disease ORPHA:576360
- Neurodegeneration with brain iron accumulation ORPHA:385
- Woodhouse-Sakati syndrome ORPHA:3464
- Aceruloplasminemia ORPHA:48818
- Neuroferritinopathy ORPHA:157846
- Pantothenate kinase-associated neurodegeneration ORPHA:157850
- Classic pantothenate kinase-associated neurodegeneration ORPHA:216866
- Atypical pantothenate kinase-associated neurodegeneration ORPHA:216873
- Mitochondrial membrane protein-associated neurodegeneration ORPHA:289560
- Kufor-Rakeb syndrome ORPHA:306674
- Beta-propeller protein-associated neurodegeneration ORPHA:329284
- PLA2G6-associated neurodegeneration ORPHA:329303
- Fatty acid hydroxylase-associated neurodegeneration ORPHA:329308
- COASY protein-associated neurodegeneration ORPHA:397725
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome ORPHA:496756
- Hereditary late-onset Parkinson disease ORPHA:411602
- Hereditary sensory neuropathy-deafness-dementia syndrome ORPHA:456318
- Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ORPHA:313808
- Neuroacanthocytosis ORPHA:263440
- Neurodegenerative syndrome due to cerebral folate transport deficiency ORPHA:217382
- Marchiafava-Bignami disease ORPHA:221074
- GM2 gangliosidosis ORPHA:309152
- Sandhoff disease ORPHA:796
- Sandhoff disease, infantile form ORPHA:309155
- Sandhoff disease, juvenile form ORPHA:309162
- Sandhoff disease, adult form ORPHA:309169
- Tay-Sachs disease ORPHA:845
- Tay-Sachs disease, infantile form ORPHA:309178
- Tay-Sachs disease, juvenile form ORPHA:309185
- Tay-Sachs disease, adult form ORPHA:309192
- GM2 gangliosidosis, AB variant ORPHA:309246
- Infantile cerebellar-retinal degeneration ORPHA:313850
- Primary progressive apraxia of speech ORPHA:314566
- Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome ORPHA:352654
- Attenuated Chédiak-Higashi syndrome ORPHA:352723
- Amyotrophic lateral sclerosis type 4 ORPHA:357043
- Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome ORPHA:363400
- Autosomal recessive cerebral atrophy ORPHA:363969
- Hypotonia-speech impairment-severe cognitive delay syndrome ORPHA:371364
- Fatal post-viral neurodegenerative disorder ORPHA:391343
- Ferro-cerebro-cutaneous syndrome ORPHA:397922
- PCNA-related progressive neurodegenerative photosensitivity syndrome ORPHA:438134
- Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome ORPHA:505242
- MEPAN syndrome ORPHA:508093
- NAD(P)HX dehydratase deficiency ORPHA:555402
- NAD(P)HX epimerase deficiency ORPHA:555407
- Multiple mitochondrial dysfunctions syndrome type 4 ORPHA:457406
- Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome ORPHA:457205
- ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement ORPHA:457375
- Childhood-onset basal ganglia degeneration syndrome ORPHA:497906
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder ORPHA:500180
- Infantile bilateral striatal necrosis ORPHA:1576
- Sporadic infantile bilateral striatal necrosis ORPHA:225147
- Familial infantile bilateral striatal necrosis ORPHA:225154
- Huntington disease-like 3 ORPHA:157946
- Multiple system atrophy ORPHA:102
- Multiple system atrophy, parkinsonian type ORPHA:98933
- Multiple system atrophy, cerebellar type ORPHA:227510
- Progressive muscular atrophy ORPHA:454706
- Proximal myopathy with extrapyramidal signs ORPHA:401768
- Alternating hemiplegia ORPHA:209978
- Inherited congenital spastic tetraplegia ORPHA:210141
- Specific learning disability ORPHA:211047
- Gerstmann syndrome ORPHA:221117
- Idiopathic intracranial hypertension ORPHA:238624
- Inherited nervous system cancer-predisposing syndrome ORPHA:252190
- Von Hippel-Lindau disease ORPHA:892
- Ataxia-telangiectasia ORPHA:100
- 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
- Li-Fraumeni syndrome ORPHA:524
- Gorlin syndrome ORPHA:377
- Tuberous sclerosis complex ORPHA:805
- Neurocutaneous melanocytosis ORPHA:2481
- Turcot syndrome with polyposis ORPHA:99818
- Ataxia-telangiectasia-like disorder ORPHA:251347
- Constitutional mismatch repair deficiency syndrome ORPHA:252202
- Melanoma and neural system tumor syndrome ORPHA:252206
- Hypothalamic adipsic hypernatraemia syndrome ORPHA:443101
- Neurofibromatosis/schwannomatosis ORPHA:634518
- Full schwannomatosis ORPHA:93921
- Mosaic neurofibromatosis type 1 ORPHA:634461
- Mosaic NF2-related schwannomatosis ORPHA:634475
- Mosaic schwannomatosis ORPHA:634492
- Neurofibromatosis type 1 ORPHA:636
- 17q11 microdeletion syndrome ORPHA:97685
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion ORPHA:363700
- Full NF2-related schwannomatosis ORPHA:637
- Idiopathic recurrent stupor ORPHA:276174
- Worster-Drought syndrome ORPHA:3465
- Spontaneous periodic hypothermia ORPHA:29822
- Paraneoplastic neurologic syndrome ORPHA:36388
- Opsoclonus-myoclonus syndrome ORPHA:1183
- Lambert-Eaton myasthenic syndrome ORPHA:43393
- Cancer-associated retinopathy ORPHA:71505
- Paraneoplastic sensory ganglionopathy ORPHA:208999
- Paraneoplastic isolated brainstem encephalitis ORPHA:624190
- Paraneoplastic cerebellar degeneration ORPHA:623626
- Non-specific autoimmune supratentorial encephalitis with characteristic antibodies ORPHA:624166
- Non-specific autoimmune supratentorial encephalitis without characteristic antibodies ORPHA:624178
- Autoimmune limbic encephalitis ORPHA:623615
- Rare sleep disorder ORPHA:68354
- Glaucoma-sleep apnea syndrome ORPHA:2085
- Idiopathic hypersomnia ORPHA:33208
- Kleine-Levin syndrome ORPHA:33543
- Non-24-hour sleep-wake syndrome ORPHA:73267
- Familial advanced sleep-phase syndrome ORPHA:164736
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome ORPHA:314404
- Autoimmune encephalopathy with parasomnia and obstructive sleep apnea ORPHA:420789
- Narcolepsy ORPHA:619284
- NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance ORPHA:600663
- Leukodystrophy ORPHA:68356
- Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome ORPHA:83629
- Multiple mitochondrial dysfunctions syndrome type 4 ORPHA:457406
- Dermatoleukodystrophy ORPHA:1659
- C11ORF73-related autosomal recessive hypomyelinating leukodystrophy ORPHA:495844
- VPS11-related autosomal recessive hypomyelinating leukodystrophy ORPHA:466934
- Alexander disease ORPHA:58
- Canavan disease ORPHA:141
- Krabbe disease ORPHA:487
- Late-infantile/juvenile Krabbe disease ORPHA:206443
- Adult Krabbe disease ORPHA:206448
- Infantile Krabbe disease ORPHA:206436
- Metachromatic leukodystrophy ORPHA:512
- Metachromatic leukodystrophy, late infantile form ORPHA:309256
- Metachromatic leukodystrophy, juvenile form ORPHA:309263
- Metachromatic leukodystrophy, adult form ORPHA:309271
- Refsum disease ORPHA:773
- Cerebrotendinous xanthomatosis ORPHA:909
- Pelizaeus-Merzbacher disease ORPHA:702
- Pelizaeus-Merzbacher disease, connatal form ORPHA:280210
- Pelizaeus-Merzbacher disease, classic form ORPHA:280219
- Pelizaeus-Merzbacher disease, transitional form ORPHA:280224
- Pelizaeus-Merzbacher disease in female carriers ORPHA:280229
- Null syndrome ORPHA:280234
- X-linked adrenoleukodystrophy ORPHA:43
- Aicardi-Goutières syndrome ORPHA:51
- Nasu-Hakola disease ORPHA:2770
- CACH syndrome ORPHA:135
- Ovarioleukodystrophy ORPHA:99853
- Cree leukoencephalopathy ORPHA:99854
- Congenital or early infantile CACH syndrome ORPHA:157713
- Late infantile CACH syndrome ORPHA:157716
- Juvenile or adult CACH syndrome ORPHA:157719
- Megalencephalic leukoencephalopathy with subcortical cysts ORPHA:2478
- Peroxisome biogenesis disorder ORPHA:79189
- Zellweger syndrome ORPHA:912
- Neonatal adrenoleukodystrophy ORPHA:44
- Infantile Refsum disease ORPHA:772
- Cystic leukoencephalopathy without megalencephaly ORPHA:85136
- Hypomyelination-congenital cataract syndrome ORPHA:85163
- Spastic paraplegia type 2 ORPHA:99015
- Adult-onset autosomal dominant leukodystrophy ORPHA:99027
- Ravine syndrome ORPHA:99852
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ORPHA:137898
- Hypomyelination with atrophy of basal ganglia and cerebellum ORPHA:139441
- Leukoencephalopathy with bilateral anterior temporal lobe cysts ORPHA:139444
- Progressive cavitating leukoencephalopathy ORPHA:139447
- Leukoencephalopathy-dystonia-motor neuropathy syndrome ORPHA:163684
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease ORPHA:163746
- Pelizaeus-Merzbacher-like disease ORPHA:280270
- Pelizaeus-Merzbacher-like disease due to GJC2 mutation ORPHA:280282
- Pelizaeus-Merzbacher-like disease due to HSPD1 mutation ORPHA:280288
- Pelizaeus-Merzbacher-like disease due to AIMP1 mutation ORPHA:280293
- 4H leukodystrophy ORPHA:289494
- Odontoleukodystrophy ORPHA:77295
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome ORPHA:88637
- Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome ORPHA:137639
- Tremor-ataxia-central hypomyelination syndrome ORPHA:447896
- Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome ORPHA:447893
- Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ORPHA:313808
- Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ORPHA:314051
- Hypomyelination with brain stem and spinal cord involvement and leg spasticity ORPHA:363412
- Leukoencephalopathy with mild cerebellar ataxia and white matter edema ORPHA:363540
- CADDS ORPHA:369942
- Progressive encephalopathy with leukodystrophy due to DECR deficiency ORPHA:431361
- Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy ORPHA:436271
- RARS-related autosomal recessive hypomyelinating leukodystrophy ORPHA:438114
- Ribose-5-P isomerase deficiency ORPHA:440706
- MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome ORPHA:597874
- Early-onset calcifying leukoencephalopathy-skeletal dysplasia ORPHA:556985
- Alkaline ceramidase 3 deficiency ORPHA:502444
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy ORPHA:527497
- Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome ORPHA:611207
- Hypomyelination of early myelinating structures ORPHA:599376
- Episodic memory defect leukoencephalopathy ORPHA:662229
- Adult-onset progressive leukoencephalopathy-early-onset deafness ORPHA:652532
- Neuromuscular disease ORPHA:68381
- Muscular channelopathy ORPHA:71864
- Autoimmune neurological channelopathy ORPHA:98750
- Lambert-Eaton myasthenic syndrome ORPHA:43393
- Morvan syndrome ORPHA:83467
- Isaacs syndrome ORPHA:84142
- Cramp-fasciculation syndrome ORPHA:581271
- Genetic neurological muscular channelopathy ORPHA:98737
- Neurological muscular channelopathy due to a genetic sodium channel defect ORPHA:98738
- Paramyotonia congenita of Von Eulenburg ORPHA:684
- Hypokalemic periodic paralysis ORPHA:681
- Hyperkalemic periodic paralysis ORPHA:682
- Potassium-aggravated myotonia ORPHA:612
- Myotonia fluctuans ORPHA:99734
- Myotonia permanens ORPHA:99735
- Acetazolamide-responsive myotonia ORPHA:99736
- Postsynaptic congenital myasthenic syndromes ORPHA:98913
- Congenital limbs-face contractures-hypotonia-developmental delay syndrome ORPHA:562528
- Distal arthrogryposis type 1 ORPHA:1146
- Freeman-Sheldon syndrome ORPHA:2053
- Hypotonia-speech impairment-severe cognitive delay syndrome ORPHA:371364
- Sheldon-Hall syndrome ORPHA:1147
- Neurological muscular channelopathy due to a genetic chloride channel defect ORPHA:98739
- Neurological muscular channelopathy due to a genetic calcium channel defect ORPHA:98740
- Hypokalemic periodic paralysis ORPHA:681
- Periodic paralysis with transient compartment-like syndrome ORPHA:397755
- Neurological muscular channelopathy due to a genetic potassium channel defect ORPHA:98741
- Hypokalemic periodic paralysis ORPHA:681
- Andersen-Tawil syndrome ORPHA:37553
- Myoclonus-dystonia syndrome ORPHA:36899
- Hereditary continuous muscle fiber activity ORPHA:972
- Neurological muscular channelopathy due to a genetic ryanodine receptor defect ORPHA:98742
- Central core disease ORPHA:597
- Malignant hyperthermia of anesthesia ORPHA:423
- Autosomal recessive centronuclear myopathy ORPHA:169186
- Benign Samaritan congenital myopathy ORPHA:324581
- Congenital multicore myopathy with external ophthalmoplegia ORPHA:98905
- Congenital myopathy with myasthenic-like onset ORPHA:424107
- King-Denborough syndrome ORPHA:99741
- Moderate multiminicore disease with hand involvement ORPHA:178145
- Skeletal muscle disease ORPHA:98472
- Genetic skeletal muscle disease ORPHA:206634
- Cyprus facial-neuromusculoskeletal syndrome ORPHA:2674
- Tel Hashomer camptodactyly syndrome ORPHA:3292
- Wieacker-Wolff syndrome ORPHA:3454
- Distal myopathy ORPHA:599
- Autosomal dominant distal myopathy ORPHA:206650
- Oculopharyngodistal myopathy ORPHA:98897
- Distal myopathy, Welander type ORPHA:603
- Tibial muscular dystrophy ORPHA:609
- Vocal cord and pharyngeal distal myopathy ORPHA:600
- Laing distal myopathy ORPHA:59135
- Distal myopathy with posterior leg and anterior hand involvement ORPHA:63273
- Desminopathy ORPHA:98909
- Distal myotilinopathy ORPHA:98911
- Late-onset distal myopathy, Markesbery-Griggs type ORPHA:98912
- Adult-onset distal myopathy due to VCP mutation ORPHA:329478
- Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ORPHA:397744
- Alpha-B crystallin-related late-onset myopathy ORPHA:399058
- KLHL9-related early-onset distal myopathy ORPHA:399081
- Finnish upper limb-onset distal myopathy ORPHA:399086
- Distal myopathy, Tateyama type ORPHA:488650
- Autosomal recessive distal myopathy ORPHA:206653
- GNE myopathy ORPHA:602
- Miyoshi myopathy ORPHA:45448
- Distal myopathy with anterior tibial onset ORPHA:178400
- Distal anoctaminopathy ORPHA:399096
- Distal nebulin myopathy ORPHA:399103
- Oculopharyngodistal myopathy ORPHA:98897
- Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome ORPHA:689021
- Adenylosuccinate synthetase-like 1-related distal myopathy ORPHA:482601
- Vacuolar myopathy with sarcoplasmic reticulum protein aggregates ORPHA:88635
- Muscular dystrophy ORPHA:98473
- Congenital muscular dystrophy ORPHA:97242
- Laminin subunit alpha 2-related congenital muscular dystrophy ORPHA:258
- Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome ORPHA:1875
- Congenital muscular dystrophy with integrin alpha-7 deficiency ORPHA:34520
- Rigid spine syndrome ORPHA:97244
- Congenital muscular dystrophy type 1B ORPHA:98893
- Congenital muscular dystrophy due to LMNA mutation ORPHA:157973
- Congenital myopathy, Paradas type ORPHA:199329
- Megaconial congenital muscular dystrophy ORPHA:280671
- Autosomal recessive myogenic arthrogryposis multiplex congenita ORPHA:319332
- Congenital muscular dystrophy due to dystroglycanopathy ORPHA:370953
- DPM3-CDG ORPHA:263494
- Congenital muscular dystrophy with intellectual disability and severe epilepsy ORPHA:329178
- Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ORPHA:352687
- Congenital muscular dystrophy, Fukuyama type ORPHA:272
- Walker-Warburg syndrome ORPHA:899
- Muscle-eye-brain disease ORPHA:588
- Muscle-eye-brain disease with bilateral multicystic leucodystrophy ORPHA:370997
- Congenital muscular dystrophy with cerebellar involvement ORPHA:370959
- Congenital muscular dystrophy with intellectual disability ORPHA:370968
- Congenital muscular dystrophy without intellectual disability ORPHA:370980
- Congenital muscular dystrophy with hyperlaxity ORPHA:371007
- Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome ORPHA:486815
- Collagen VI-related congenital muscular dystrophy ORPHA:646098
- Bethlem muscular dystrophy ORPHA:610
- Ullrich congenital muscular dystrophy ORPHA:75840
- Intermediate collagen VI-related muscular dystrophy ORPHA:646113
- Congenital muscular dystrophy-cataract-intellectual disability syndrome ORPHA:662184
- Myopathic Ehlers-Danlos syndrome ORPHA:536516
- Progressive muscular dystrophy ORPHA:206644
- Epidermolysis bullosa simplex with muscular dystrophy ORPHA:257
- Duchenne and Becker muscular dystrophy ORPHA:262
- Becker muscular dystrophy ORPHA:98895
- Duchenne muscular dystrophy ORPHA:98896
- Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers ORPHA:206546
- Emery-Dreifuss muscular dystrophy ORPHA:261
- Autosomal dominant Emery-Dreifuss muscular dystrophy ORPHA:98853
- Autosomal recessive Emery-Dreifuss muscular dystrophy ORPHA:98855
- X-linked Emery-Dreifuss muscular dystrophy ORPHA:98863
- Facioscapulohumeral dystrophy ORPHA:269
- Schwartz-Jampel syndrome ORPHA:800
- Bethlem muscular dystrophy ORPHA:610
- Oculopharyngeal muscular dystrophy ORPHA:270
- Limb-girdle muscular dystrophy ORPHA:263
- Autosomal dominant limb-girdle muscular dystrophy ORPHA:102014
- Calpain-3-related limb-girdle muscular dystrophy D4 ORPHA:565909
- DNAJB6-related limb-girdle muscular dystrophy D1 ORPHA:34516
- TNP03-related limb-girdle muscular dystrophy D2 ORPHA:55595
- HNRNPDL-related limb-girdle muscular dystrophy D3 ORPHA:55596
- Autosomal recessive limb-girdle muscular dystrophy ORPHA:102015
- Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 ORPHA:565837
- POGLUT1-related limb-girdle muscular dystrophy R21 ORPHA:480682
- Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 ORPHA:62
- Calpain-3-related limb-girdle muscular dystrophy R1 ORPHA:267
- TRIM32-related limb-girdle muscular dystrophy R8 ORPHA:1878
- Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 ORPHA:119
- Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 ORPHA:353
- Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 ORPHA:219
- Dysferlin-related limb-girdle muscular dystrophy R2 ORPHA:268
- Telethonin-related limb-girdle muscular dystrophy R7 ORPHA:34514
- FKRP-related limb-girdle muscular dystrophy R9 ORPHA:34515
- POMT1-related limb-girdle muscular dystrophy R11 ORPHA:86812
- Titin-related limb-girdle muscular dystrophy R10 ORPHA:140922
- Anoctamin-5-related limb-girdle muscular dystrophy R12 ORPHA:206549
- Fukutin-related limb-girdle muscular dystrophy R13 ORPHA:206554
- POMT2-related limb-girdle muscular dystrophy R14 ORPHA:206559
- POMGNT1-related limb-girdle muscular dystrophy R15 ORPHA:206564
- Plectin-related limb-girdle muscular dystrophy R17 ORPHA:254361
- Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 ORPHA:280333
- ISPD-related limb-girdle muscular dystrophy R20 ORPHA:352479
- GMPPB-related limb-girdle muscular dystrophy R19 ORPHA:363623
- TRAPPC11-related limb-girdle muscular dystrophy R18 ORPHA:369840
- TOR1AIP1-related limb-girdle muscular dystrophy ORPHA:424261
- Limb-girdle muscular dystrophy due to POMK deficiency ORPHA:445110
- BVES-related limb-girdle muscular dystrophy ORPHA:476084
- Autosomal recessive limb-girdle muscular dystrophy, type 28 ORPHA:653725
- POMGNT2-related limb-girdle muscular dystrophy R24 ORPHA:565899
- X-linked myopathy with excessive autophagy ORPHA:25980
- Congenital fibrosis of extraocular muscles ORPHA:45358
- Oculopharyngodistal myopathy ORPHA:98897
- X-linked myopathy with postural muscle atrophy ORPHA:178461
- Hereditary myopathy with early respiratory failure ORPHA:178464
- Myotonic dystrophy ORPHA:206647
- 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
- Proximal myotonic myopathy ORPHA:606
- Late-onset scapuloperoneal muscular dystrophy with hyaline bodies ORPHA:431263
- Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome ORPHA:466921
- Progressive scapulohumeroperoneal distal myopathy ORPHA:447977
- Non-dystrophic myopathy ORPHA:206656
- Proximal myopathy with focal depletion of mitochondria ORPHA:521305
- Myofibrillar myopathy ORPHA:593
- Desminopathy ORPHA:98909
- Alpha-crystallinopathy ORPHA:98910
- Fatal infantile hypertonic myofibrillar myopathy ORPHA:280553
- Alpha-B crystallin-related late-onset myopathy ORPHA:399058
- Myotilinopathy ORPHA:209224
- Spheroid body myopathy ORPHA:268129
- Autosomal dominant limb-girdle muscular dystrophy type 1A ORPHA:266
- Distal myotilinopathy ORPHA:98911
- Late-onset distal myopathy, Markesbery-Griggs type ORPHA:98912
- Muscle filaminopathy ORPHA:171445
- Muscular dystrophy, Selcen type ORPHA:199340
- Hypercontractile muscle stiffness syndrome ORPHA:476403
- Congenital generalized hypercontractile muscle stiffness syndrome ORPHA:476406
- Fatal infantile hypertonic myofibrillar myopathy ORPHA:280553
- Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome ORPHA:496686
- Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome ORPHA:476093
- Hereditary continuous muscle fiber activity ORPHA:972
- Brody myopathy ORPHA:53347
- Rippling muscle disease ORPHA:97238
- Congenital myopathy ORPHA:97245
- Qazi-Markouizos syndrome ORPHA:3010
- Carey-Fineman-Ziter syndrome ORPHA:1358
- Congenital fiber-type disproportion myopathy ORPHA:2020
- Tubular aggregate myopathy ORPHA:2593
- Intellectual disability-myopathy-short stature-endocrine defect syndrome ORPHA:3068
- Centronuclear myopathy ORPHA:595
- X-linked centronuclear myopathy ORPHA:596
- Autosomal recessive centronuclear myopathy ORPHA:169186
- Autosomal dominant centronuclear myopathy ORPHA:169189
- X-linked myotubular myopathy-abnormal genitalia syndrome ORPHA:456328
- Symptomatic form of X-linked centronuclear myopathy in female carriers ORPHA:604680
- Congenital myopathy with internal nuclei and atypical cores ORPHA:319160
- Myosin storage myopathy ORPHA:53698
- Autosomal dominant myosin storage myopathy ORPHA:636965
- Autosomal recessive myosin storage myopathy ORPHA:636970
- Fingerprint body myopathy ORPHA:97232
- Reducing body myopathy ORPHA:97239
- Zebra body myopathy ORPHA:97240
- Congenital myopathy with excess of thin filaments ORPHA:98904
- King-Denborough syndrome ORPHA:99741
- Native American myopathy ORPHA:168572
- Cap myopathy ORPHA:171881
- Cylindrical spirals myopathy ORPHA:171886
- Myopathy with hexagonally cross-linked tubular arrays ORPHA:171889
- Congenital myopathy with cores ORPHA:172976
- Central core disease ORPHA:597
- Multiminicore myopathy ORPHA:598
- Congenital multicore myopathy with external ophthalmoplegia ORPHA:98905
- Moderate multiminicore disease with hand involvement ORPHA:178145
- Antenatal multiminicore disease with arthrogryposis multiplex congenita ORPHA:178148
- Classic multiminicore myopathy ORPHA:324604
- Congenital myopathy with internal nuclei and atypical cores ORPHA:319160
- Congenital lethal myopathy, Compton-North type ORPHA:210163
- Benign Samaritan congenital myopathy ORPHA:324581
- Fetal akinesia-cerebral and retinal hemorrhage syndrome ORPHA:363409
- Congenital myopathy with myasthenic-like onset ORPHA:424107
- Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome ORPHA:439212
- Congenital myopathy with reduced type 2 muscle fibers ORPHA:544602
- Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome ORPHA:447974
- Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome ORPHA:467176
- Congenital nemaline myopathy ORPHA:457074
- Metabolic myopathy ORPHA:98486
- Mitochondrial myopathy ORPHA:206966
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome ORPHA:502423
- Kearns-Sayre syndrome ORPHA:480
- MELAS ORPHA:550
- MERRF ORPHA:551
- Isolated complex I deficiency ORPHA:2609
- Adenosine monophosphate deaminase deficiency ORPHA:45
- Barth syndrome ORPHA:111
- Mitochondrial myopathy-lactic acidosis-deafness syndrome ORPHA:2597
- Mitochondrial myopathy and sideroblastic anemia ORPHA:2598
- Mitochondrial trifunctional protein deficiency ORPHA:746
- Isolated succinate-CoQ reductase deficiency ORPHA:3208
- Mitochondrial DNA-related progressive external ophthalmoplegia ORPHA:663
- Mitochondrial neurogastrointestinal encephalomyopathy ORPHA:298
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome ORPHA:70595
- Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency ORPHA:329314
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy ORPHA:329336
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome ORPHA:330054
- DNA2-related mitochondrial DNA deletion syndrome ORPHA:352470
- Mitochondrial DNA depletion syndrome, myopathic form ORPHA:254875
- Progressive external ophthalmoplegia-myopathy-emaciation syndrome ORPHA:352447
- Autosomal dominant mitochondrial myopathy with exercise intolerance ORPHA:457050
- Hereditary myopathy with lactic acidosis due to ISCU deficiency ORPHA:43115
- Metabolic myopathy due to lactate transporter defect ORPHA:171690
- Muscular lipidosis ORPHA:206953
- Carnitine palmitoyltransferase II deficiency ORPHA:157
- Carnitine palmitoyl transferase II deficiency, myopathic form ORPHA:228302
- Carnitine palmitoyl transferase II deficiency, severe infantile form ORPHA:228305
- Carnitine palmitoyl transferase II deficiency, neonatal form ORPHA:228308
- Neutral lipid storage disease ORPHA:165
- Neutral lipid storage disease with ichthyosis ORPHA:98907
- Neutral lipid storage disease with myopathy ORPHA:98908
- Triglyceride deposit cardiomyovasculopathy ORPHA:692305
- Systemic primary carnitine deficiency ORPHA:158
- Myopathy and diabetes mellitus ORPHA:2596
- Multiple acyl-CoA dehydrogenase deficiency ORPHA:26791
- Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type ORPHA:394529
- Multiple acyl-CoA dehydrogenase deficiency, mild type ORPHA:394532
- Short chain acyl-CoA dehydrogenase deficiency ORPHA:26792
- Very long chain acyl-CoA dehydrogenase deficiency ORPHA:26793
- Genetic recurrent myoglobinuria ORPHA:99845
- Autosomal dominant myoglobinuria ORPHA:99846
- Muscular glycogenosis ORPHA:206959
- Glycogen storage disease due to acid maltase deficiency ORPHA:365
- Glycogen storage disease due to acid maltase deficiency, infantile onset ORPHA:308552
- Glycogen storage disease due to acid maltase deficiency, late-onset ORPHA:420429
- Glycogen storage disease due to glycogen debranching enzyme deficiency ORPHA:366
- Glycogen storage disease due to glycogen branching enzyme deficiency ORPHA:367
- Adult polyglucosan body disease ORPHA:206583
- Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form ORPHA:308621
- Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form ORPHA:308638
- Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form ORPHA:308655
- Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form ORPHA:308670
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form ORPHA:308684
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form ORPHA:308698
- Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form ORPHA:308712
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency ORPHA:368
- Glycogen storage disease due to muscle phosphofructokinase deficiency ORPHA:371
- Glycogen storage disease due to muscle phosphorylase kinase deficiency ORPHA:715
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency ORPHA:713
- Danon disease ORPHA:34587
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency ORPHA:79240
- Glycogen storage disease due to phosphoglycerate mutase deficiency ORPHA:97234
- Glycogen storage disease due to muscle beta-enolase deficiency ORPHA:99849
- Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency ORPHA:263297
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency ORPHA:284426
- Polyglucosan body myopathy type 1 ORPHA:397937
- Polyglucosan body myopathy type 2 ORPHA:456369
- Myosclerosis ORPHA:289380
- Inclusion myopathy ORPHA:206662
- GNE myopathy ORPHA:602
- X-linked myopathy with excessive autophagy ORPHA:25980
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia ORPHA:52430
- Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome ORPHA:79091
- Desmin-related myopathy with Mallory body-like inclusions ORPHA:84132
- Desminopathy ORPHA:98909
- Hereditary myopathy with early respiratory failure ORPHA:178464
- Hereditary inclusion body myopathy type 4 ORPHA:324381
- Childhood-onset autosomal recessive myopathy with external ophthalmoplegia ORPHA:363677
- Early-onset myopathy with fatal cardiomyopathy ORPHA:289377
- Proximal myopathy with extrapyramidal signs ORPHA:401768
- Nemaline myopathy ORPHA:607
- Amish nemaline myopathy ORPHA:98902
- Severe congenital nemaline myopathy ORPHA:171430
- Intermediate nemaline myopathy ORPHA:171433
- Typical nemaline myopathy ORPHA:171436
- Childhood-onset nemaline myopathy ORPHA:171439
- Adult-onset nemaline myopathy ORPHA:171442
- Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome ORPHA:221043
- Myotonic syndrome ORPHA:206970
- Paramyotonia congenita of Von Eulenburg ORPHA:684
- Potassium-aggravated myotonia ORPHA:612
- Myotonia fluctuans ORPHA:99734
- Myotonia permanens ORPHA:99735
- Acetazolamide-responsive myotonia ORPHA:99736
- Myotonic dystrophy ORPHA:206647
- 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
- Proximal myotonic myopathy ORPHA:606
- Congenital myotonia ORPHA:206973
- Periodic paralysis ORPHA:206976
- Hypokalemic periodic paralysis ORPHA:681
- Hyperkalemic periodic paralysis ORPHA:682
- Andersen-Tawil syndrome ORPHA:37553
- Thyrotoxic periodic paralysis ORPHA:79102
- Periodic paralysis with later-onset distal motor neuropathy ORPHA:397750
- Periodic paralysis with transient compartment-like syndrome ORPHA:397755
- Acquired skeletal muscle disease ORPHA:206638
- Idiopathic camptocormia ORPHA:1320
- Macrophagic myofasciitis ORPHA:592
- Idiopathic inflammatory myopathy ORPHA:98482
- Inclusion body myositis ORPHA:611
- Polymyositis ORPHA:732
- Dermatomyositis ORPHA:221
- Amyopathic dermatomyositis ORPHA:645617
- Adermatopathic dermatomyositis ORPHA:645626
- Classical dermatomyositis ORPHA:645613
- Eosinophilic fasciitis ORPHA:3165
- Antisynthetase syndrome ORPHA:81
- Focal myositis ORPHA:48918
- Immune-mediated necrotizing myopathy ORPHA:206569
- Overlap myositis ORPHA:206572
- Inflammatory myopathy with abundant macrophages ORPHA:247718
- Idiopathic eosinophilic myositis ORPHA:247724
- Juvenile idiopathic inflammatory myopathy ORPHA:329888
- Muscular tumor ORPHA:206982
- Rhabdomyosarcoma ORPHA:780
- Alveolar rhabdomyosarcoma ORPHA:99756
- Pleomorphic rhabdomyosarcoma ORPHA:293199
- Embryonal rhabdomyosarcoma ORPHA:99757
- Infantile myofibromatosis ORPHA:2591
- Myxofibrosarcoma ORPHA:79105
- Infectious, fungal or parasitic myopathy ORPHA:206988
- Viral myositis ORPHA:206991
- Bacterial myositis ORPHA:206994
- Parasitic myositis ORPHA:206997
- Fungal myositis ORPHA:207000
- Idiopathic dropped head syndrome ORPHA:447881
- Neuromuscular junction disease ORPHA:98491
- Acquired neuromuscular junction disease ORPHA:98494
- Botulism ORPHA:1267
- Foodborne botulism ORPHA:228371
- Toxin-mediated infectious botulism ORPHA:230800
- Inhalational botulism ORPHA:254504
- Iatrogenic botulism ORPHA:254509
- Immune-mediated acquired neuromuscular junction disease ORPHA:464764
- Genetic neuromuscular junction disease ORPHA:98495
- Motor neuron disease ORPHA:98503
- Amyotrophic lateral sclerosis ORPHA:803
- Primary lateral sclerosis ORPHA:35689
- Genetic motor neuron disease ORPHA:98505
- Distal hereditary motor neuropathy ORPHA:53739
- Autosomal dominant distal hereditary motor neuropathy ORPHA:140465
- Autosomal dominant congenital benign spinal muscular atrophy ORPHA:1216
- Autosomal dominant spastic paraplegia type 17 ORPHA:100998
- Distal hereditary motor neuropathy type 1 ORPHA:139518
- Distal hereditary motor neuropathy type 2 ORPHA:139525
- Distal hereditary motor neuropathy type 5 ORPHA:139536
- Distal hereditary motor neuropathy type 7 ORPHA:139589
- Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ORPHA:397744
- Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome ORPHA:476093
- Autosomal recessive distal hereditary motor neuropathy ORPHA:140468
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome ORPHA:496756
- Spinal muscular atrophy with respiratory distress type 1 ORPHA:98920
- Distal spinal muscular atrophy type 3 ORPHA:139547
- Distal hereditary motor neuropathy, Jerash type ORPHA:139552
- Young adult-onset distal hereditary motor neuropathy ORPHA:314485
- COQ7-related distal hereditary motor neuropathy ORPHA:658778
- X-linked distal hereditary motor neuropathy ORPHA:404538
- Neurogenic scapuloperoneal syndrome, Kaeser type ORPHA:85146
- Madras motor neuron disease ORPHA:137867
- Bulbospinal muscular atrophy ORPHA:206701
- Bulbospinal muscular atrophy of childhood ORPHA:206704
- Bulbospinal muscular atrophy of adult ORPHA:206707
- Generalized bulbospinal muscular atrophy ORPHA:206710
- Spinal atrophy-ophthalmoplegia-pyramidal syndrome ORPHA:1217
- Autosomal recessive lower motor neuron disease with childhood onset ORPHA:206580
- Spinal muscular atrophy associated with central nervous system anomaly ORPHA:207012
- Autosomal dominant proximal spinal muscular atrophy ORPHA:211037
- Autosomal dominant adult-onset proximal spinal muscular atrophy ORPHA:209335
- Lower motor neuron syndrome with late-adult onset ORPHA:276435
- Autosomal dominant childhood-onset proximal spinal muscular atrophy ORPHA:363447
- Juvenile primary lateral sclerosis ORPHA:247604
- Infantile-onset ascending hereditary spastic paralysis ORPHA:293168
- Juvenile amyotrophic lateral sclerosis ORPHA:300605
- Amyotrophic lateral sclerosis type 4 ORPHA:357043
- Scapuloperoneal spinal muscular atrophy ORPHA:431255
- Proximal spinal muscular atrophy ORPHA:70
- Proximal spinal muscular atrophy type 1 ORPHA:83330
- Proximal spinal muscular atrophy type 2 ORPHA:83418
- Proximal spinal muscular atrophy type 3 ORPHA:83419
- Proximal spinal muscular atrophy type 4 ORPHA:83420
- Prenatal-onset spinal muscular atrophy with congenital bone fractures ORPHA:486811
- Spinal muscular atrophy-progressive myoclonic epilepsy syndrome ORPHA:2590
- Acquired motor neuron disease ORPHA:98506
- Poliomyelitis ORPHA:2912
- Postpoliomyelitis syndrome ORPHA:2942
- Monomelic amyotrophy ORPHA:65684
- Mills syndrome ORPHA:94091
- O'Sullivan-McLeod syndrome ORPHA:99965
- Progressive muscular atrophy ORPHA:454706
- Neurometabolic disease ORPHA:68385
- Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate ORPHA:615964
- Mitochondrial DNA depletion syndrome, myopathic form ORPHA:254875
- Autosomal dominant progressive external ophthalmoplegia ORPHA:254892
- Autosomal recessive progressive external ophthalmoplegia ORPHA:254886
- Mitochondrial DNA-related progressive external ophthalmoplegia ORPHA:663
- Progressive external ophthalmoplegia-myopathy-emaciation syndrome ORPHA:352447
- Spastic paraparesis-cataracts-speech delay syndrome ORPHA:615938
- Alpha-mannosidosis ORPHA:61
- Aspartylglucosaminuria ORPHA:93
- Multiple sulfatase deficiency ORPHA:585
- Canavan disease ORPHA:141
- Farber disease ORPHA:333
- Krabbe disease ORPHA:487
- Late-infantile/juvenile Krabbe disease ORPHA:206443
- Adult Krabbe disease ORPHA:206448
- Infantile Krabbe disease ORPHA:206436
- Sialidosis type 1 ORPHA:812
- Friedreich ataxia ORPHA:95
- Kearns-Sayre syndrome ORPHA:480
- MELAS ORPHA:550
- MERRF ORPHA:551
- Metachromatic leukodystrophy ORPHA:512
- Metachromatic leukodystrophy, late infantile form ORPHA:309256
- Metachromatic leukodystrophy, juvenile form ORPHA:309263
- Metachromatic leukodystrophy, adult form ORPHA:309271
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Mucopolysaccharidosis type 1 ORPHA:579
- Wilson disease ORPHA:905
- Ataxia with vitamin E deficiency ORPHA:96
- Homocystinuria due to cystathionine beta-synthase deficiency ORPHA:394
- NARP syndrome ORPHA:644
- Abetalipoproteinemia ORPHA:14
- Menkes disease ORPHA:565
- Triose phosphate-isomerase deficiency ORPHA:868
- Neurodegeneration with brain iron accumulation ORPHA:385
- Woodhouse-Sakati syndrome ORPHA:3464
- Aceruloplasminemia ORPHA:48818
- Neuroferritinopathy ORPHA:157846
- Pantothenate kinase-associated neurodegeneration ORPHA:157850
- Classic pantothenate kinase-associated neurodegeneration ORPHA:216866
- Atypical pantothenate kinase-associated neurodegeneration ORPHA:216873
- Mitochondrial membrane protein-associated neurodegeneration ORPHA:289560
- Kufor-Rakeb syndrome ORPHA:306674
- Beta-propeller protein-associated neurodegeneration ORPHA:329284
- PLA2G6-associated neurodegeneration ORPHA:329303
- Fatty acid hydroxylase-associated neurodegeneration ORPHA:329308
- COASY protein-associated neurodegeneration ORPHA:397725
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome ORPHA:496756
- Isolated complex I deficiency ORPHA:2609
- Refsum disease ORPHA:773
- Succinic semialdehyde dehydrogenase deficiency ORPHA:22
- Encephalopathy due to sulfite oxidase deficiency ORPHA:833
- Isolated sulfite oxidase deficiency ORPHA:99731
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency ORPHA:99732
- Spastic ataxia-dysarthria due to glutaminase deficiency ORPHA:557056
- Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome ORPHA:544488
- NAD(P)HX dehydratase deficiency ORPHA:555402
- NAD(P)HX epimerase deficiency ORPHA:555407
- 1p36.33 duplication syndrome ORPHA:656279
- Autosomal recessive ataxia due to PEX2 deficiency ORPHA:642965
- Disorder of pterin metabolism ORPHA:309819
- Dopa-responsive dystonia ORPHA:255
- Autosomal recessive dopa-responsive dystonia ORPHA:101150
- Dopa-responsive dystonia due to sepiapterin reductase deficiency ORPHA:70594
- Autosomal dominant dopa-responsive dystonia ORPHA:98808
- Hyperphenylalaninemia due to tetrahydrobiopterin deficiency ORPHA:238583
- Dihydropteridine reductase deficiency ORPHA:226
- 6-pyruvoyl-tetrahydropterin synthase deficiency ORPHA:13
- GTP cyclohydrolase I deficiency ORPHA:2102
- Pterin-4 alpha-carbinolamine dehydratase deficiency ORPHA:1578
- Hyperphenylalaninemia due to DNAJC12 deficiency ORPHA:508523
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ORPHA:70472
- Lipoyl transferase 2 deficiency ORPHA:447795
- Multiple mitochondrial dysfunctions syndrome ORPHA:289573
- Multiple mitochondrial dysfunctions syndrome type 5 ORPHA:569274
- Multiple mitochondrial dysfunctions syndrome type 6 ORPHA:569290
- Multiple mitochondrial dysfunctions syndrome type 1 ORPHA:401869
- Multiple mitochondrial dysfunctions syndrome type 2 ORPHA:401874
- Multiple mitochondrial dysfunctions syndrome type 3 ORPHA:363424
- Multiple mitochondrial dysfunctions syndrome type 4 ORPHA:457406
- Galactosialidosis ORPHA:351
- Hartnup disease ORPHA:2116
- Leigh syndrome ORPHA:506
- Free sialic acid storage disease ORPHA:834
- Free sialic acid storage disease, infantile form ORPHA:309324
- Intermediate severe Salla disease ORPHA:309331
- Salla disease ORPHA:309334
- Sjögren-Larsson syndrome ORPHA:816
- Cerebrotendinous xanthomatosis ORPHA:909
- Phenylketonuria ORPHA:716
- Mild phenylketonuria ORPHA:79253
- Classic phenylketonuria ORPHA:79254
- Mild hyperphenylalaninemia ORPHA:79651
- Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria ORPHA:293284
- GM1 gangliosidosis ORPHA:354
- GM1 gangliosidosis type 1 ORPHA:79255
- GM1 gangliosidosis type 2 ORPHA:79256
- GM1 gangliosidosis type 3 ORPHA:79257
- Neuronal ceroid lipofuscinosis ORPHA:216
- Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947
- CLN1 disease ORPHA:228329
- CLN2 disease ORPHA:228349
- CLN3 disease ORPHA:228346
- CLN4 disease ORPHA:228343
- CLN12 disease ORPHA:314632
- CLN11 disease ORPHA:314629
- CLN5 disease ORPHA:228360
- CLN6 disease ORPHA:228363
- CLN7 disease ORPHA:228366
- CLN8 disease ORPHA:228354
- CLN13 disease ORPHA:352709
- CLN10 disease ORPHA:228337
- 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
- Alpha-N-acetylgalactosaminidase deficiency ORPHA:3137
- Alpha-N-acetylgalactosaminidase deficiency type 1 ORPHA:79279
- Alpha-N-acetylgalactosaminidase deficiency type 2 ORPHA:79280
- Alpha-N-acetylgalactosaminidase deficiency type 3 ORPHA:79281
- X-linked adrenoleukodystrophy ORPHA:43
- Niemann-Pick disease type C ORPHA:646
- Niemann-Pick disease type C, severe perinatal form ORPHA:216972
- Niemann-Pick disease type C, severe early infantile neurologic onset ORPHA:216975
- Niemann-Pick disease type C, late infantile neurologic onset ORPHA:216978
- Niemann-Pick disease type C, juvenile neurologic onset ORPHA:216981
- Niemann-Pick disease type C, adult neurologic onset ORPHA:216986
- Pyridoxine-dependent-developmental and epileptic encephalopathy ORPHA:3006
- Oxoglutaric aciduria ORPHA:31
- Guanidinoacetate methyltransferase deficiency ORPHA:382
- Alpers-Huttenlocher syndrome ORPHA:726
- Choreoacanthocytosis ORPHA:2388
- De Barsy syndrome ORPHA:2962
- Monoamine oxidase A deficiency ORPHA:3057
- Hereditary hyperekplexia ORPHA:3197
- 2-hydroxyglutaric aciduria ORPHA:19
- L-2-hydroxyglutaric aciduria ORPHA:79314
- D-2-hydroxyglutaric aciduria ORPHA:79315
- D,L-2-hydroxyglutaric aciduria ORPHA:356978
- Homocystinuria without methylmalonic aciduria ORPHA:622
- Methylcobalamin deficiency type cblE ORPHA:2169
- Methylcobalamin deficiency type cblG ORPHA:2170
- Methylcobalamin deficiency type cblDv1 ORPHA:308380
- Fumaric aciduria ORPHA:24
- Glycine encephalopathy ORPHA:407
- Neonatal glycine encephalopathy ORPHA:289857
- Infantile glycine encephalopathy ORPHA:289860
- Atypical glycine encephalopathy ORPHA:289863
- Glutaryl-CoA dehydrogenase deficiency ORPHA:25
- 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
- Gamma-aminobutyric acid transaminase deficiency ORPHA:2066
- Hyperprolinemia type 1 ORPHA:419
- Dopamine beta-hydroxylase deficiency ORPHA:230
- Tangier disease ORPHA:31150
- Coenzyme Q10 deficiency ORPHA:35656
- Ataxia-oculomotor apraxia type 1 ORPHA:1168
- Autosomal recessive ataxia due to ubiquinone deficiency ORPHA:139485
- Deafness-encephaloneuropathy-obesity-valvulopathy syndrome ORPHA:254898
- Familial steroid-resistant nephrotic syndrome with sensorineural deafness ORPHA:280406
- Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome ORPHA:319678
- Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ORPHA:457185
- COQ7-related distal hereditary motor neuropathy ORPHA:658778
- L-Arginine:glycine amidinotransferase deficiency ORPHA:35704
- Neurometabolic disorder due to serine deficiency ORPHA:35705
- Neu-Laxova syndrome ORPHA:2671
- Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency ORPHA:583602
- Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency ORPHA:583607
- Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency ORPHA:583612
- Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome ORPHA:447997
- Serine biosynthesis pathway deficiency, infantile/juvenile form ORPHA:583595
- Aromatic L-amino acid decarboxylase deficiency ORPHA:35708
- X-linked creatine transporter deficiency ORPHA:52503
- McLeod neuroacanthocytosis syndrome ORPHA:59306
- Biotin-thiamine-responsive basal ganglia disease ORPHA:65284
- Beta-ureidopropionase deficiency ORPHA:65287
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency ORPHA:71212
- Classic glucose transporter type 1 deficiency syndrome ORPHA:71277
- Congenital brain dysgenesis due to glutamine synthetase deficiency ORPHA:71278
- Gaucher disease type 2 ORPHA:77260
- Gaucher disease type 3 ORPHA:77261
- Infantile neurovisceral acid sphingomyelinase deficiency ORPHA:77292
- Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy ORPHA:79096
- Folinic acid-responsive seizures ORPHA:79097
- Hyperprolinemia type 2 ORPHA:79101
- Hydroxykynureninuria ORPHA:79155
- 2-methylbutyryl-CoA dehydrogenase deficiency ORPHA:79157
- Peroxisome biogenesis disorder ORPHA:79189
- Zellweger syndrome ORPHA:912
- Neonatal adrenoleukodystrophy ORPHA:44
- Infantile Refsum disease ORPHA:772
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency ORPHA:88639
- Aminoacylase 1 deficiency ORPHA:137754
- Encephalopathy due to prosaposin deficiency ORPHA:139406
- FASTKD2-related infantile mitochondrial encephalomyopathy ORPHA:166105
- Methionine adenosyltransferase I/III deficiency ORPHA:168598
- Hypoxanthine-guanine phosphoribosyltransferase deficiency ORPHA:206428
- Lesch-Nyhan syndrome ORPHA:510
- Hypoxanthine guanine phosphoribosyltransferase partial deficiency ORPHA:79233
- Urocanic aciduria ORPHA:210128
- Severe X-linked mitochondrial encephalomyopathy ORPHA:238329
- Mitochondrial DNA depletion syndrome, encephalomyopathic form ORPHA:254803
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ORPHA:1933
- Fatal infantile lactic acidosis with methylmalonic aciduria ORPHA:17
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy ORPHA:255235
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies ORPHA:369897
- Mitochondrial DNA-associated Leigh syndrome ORPHA:255210
- Hypermethioninemia encephalopathy due to adenosine kinase deficiency ORPHA:289290
- Transient hyperammonemia of the newborn ORPHA:289877
- Congenital cataract-hearing loss-severe developmental delay syndrome ORPHA:300313
- GM2 gangliosidosis ORPHA:309152
- Sandhoff disease ORPHA:796
- Sandhoff disease, infantile form ORPHA:309155
- Sandhoff disease, juvenile form ORPHA:309162
- Sandhoff disease, adult form ORPHA:309169
- Tay-Sachs disease ORPHA:845
- Tay-Sachs disease, infantile form ORPHA:309178
- Tay-Sachs disease, juvenile form ORPHA:309185
- Tay-Sachs disease, adult form ORPHA:309192
- GM2 gangliosidosis, AB variant ORPHA:309246
- Infantile cerebellar-retinal degeneration ORPHA:313850
- Combined oxidative phosphorylation defect type 11 ORPHA:324535
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy ORPHA:329336
- Seizures-intellectual disability due to hydroxylysinuria syndrome ORPHA:79156
- MEGDEL syndrome ORPHA:352328
- Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome ORPHA:352333
- Prolidase deficiency ORPHA:742
- Mitochondrial DNA depletion syndrome, hepatocerebrorenal form ORPHA:363534
- CADDS ORPHA:369942
- Congenital disorder of glycosylation with neurological involvement ORPHA:371047
- COG6-CGD ORPHA:464443
- ATP6AP1-CDG ORPHA:692790
- POMGNT2-related limb-girdle muscular dystrophy R24 ORPHA:565899
- Musculocontractural Ehlers-Danlos syndrome ORPHA:2953
- GNE myopathy ORPHA:602
- FKRP-related limb-girdle muscular dystrophy R9 ORPHA:34515
- ALG12-CDG ORPHA:79324
- B4GALT1-CDG ORPHA:79332
- Fukutin-related limb-girdle muscular dystrophy R13 ORPHA:206554
- POMGNT1-related limb-girdle muscular dystrophy R15 ORPHA:206564
- DPM3-CDG ORPHA:263494
- Progressive myoclonic epilepsy type 3 ORPHA:263516
- DDOST-CDG ORPHA:300536
- TMEM165-CDG ORPHA:314667
- Congenital myasthenic syndromes with glycosylation defect ORPHA:353327
- Congenital muscular dystrophy without intellectual disability ORPHA:370980
- Congenital disorder of glycosylation with epilepsy as a major feature ORPHA:371071
- DPM1-CDG ORPHA:79322
- MPDU1-CDG ORPHA:79323
- ALG2-CDG ORPHA:79326
- ALG1-CDG ORPHA:79327
- ALG9-CDG ORPHA:79328
- MOGS-CDG ORPHA:79330
- COG7-CDG ORPHA:79333
- Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency ORPHA:83639
- DPAGT1-CDG ORPHA:86309
- COG8-CDG ORPHA:95428
- Leukocyte adhesion deficiency type II ORPHA:99843
- SLC35A1-CDG ORPHA:238459
- RFT1-CDG ORPHA:244310
- COG4-CDG ORPHA:263501
- ALG11-CDG ORPHA:280071
- Multiple congenital anomalies-hypotonia-seizures syndrome ORPHA:280633
- Multiple congenital anomalies-hypotonia-seizures syndrome type 2 ORPHA:300496
- ALG13-CDG ORPHA:324422
- Congenital muscular dystrophy with intellectual disability and severe epilepsy ORPHA:329178
- SLC35A2-CDG ORPHA:356961
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- STT3A-CDG ORPHA:370921
- STT3B-CDG ORPHA:370924
- SSR4-CDG ORPHA:370927
- GM3 synthase deficiency ORPHA:370933
- Autism spectrum disorder-epilepsy-arthrogryposis syndrome ORPHA:370943
- CHIME syndrome ORPHA:3474
- Congenital muscular dystrophy, Fukuyama type ORPHA:272
- Walker-Warburg syndrome ORPHA:899
- Muscle-eye-brain disease ORPHA:588
- PMM2-CDG ORPHA:79318
- ALG6-CDG ORPHA:79320
- ALG3-CDG ORPHA:79321
- Early-onset epilepsy-intellectual disability-brain anomalies syndrome ORPHA:488635
- Seizures-scoliosis-macrocephaly syndrome ORPHA:466926
- COG2-CDG ORPHA:435934
- COG5-CDG ORPHA:263487
- XYLT1-CDG ORPHA:370930
- Congenital muscular dystrophy with cerebellar involvement ORPHA:370959
- Congenital muscular dystrophy with intellectual disability ORPHA:370968
- POMT1-related limb-girdle muscular dystrophy R11 ORPHA:86812
- SRD5A3-CDG ORPHA:324737
- GMPPB-related limb-girdle muscular dystrophy R19 ORPHA:363623
- Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 ORPHA:280333
- MAN1B1-CDG ORPHA:397941
- MGAT2-CDG ORPHA:79329
- Peters plus syndrome ORPHA:709
- COG1-CDG ORPHA:263508
- Temtamy preaxial brachydactyly syndrome ORPHA:363417
- ISPD-related limb-girdle muscular dystrophy R20 ORPHA:352479
- ALG8-CDG ORPHA:79325
- POMT2-related limb-girdle muscular dystrophy R14 ORPHA:206559
- Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome ORPHA:391348
- Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome ORPHA:391376
- HSD10 disease ORPHA:391417
- HSD10 disease, atypical type ORPHA:85295
- HSD10 disease, infantile type ORPHA:391428
- HSD10 disease, neonatal type ORPHA:391457
- Bilirubin encephalopathy ORPHA:415286
- Combined oxidative phosphorylation defect type 20 ORPHA:420728
- Combined oxidative phosphorylation defect type 21 ORPHA:420733
- X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency ORPHA:423479
- Progressive encephalopathy with leukodystrophy due to DECR deficiency ORPHA:431361
- Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy ORPHA:436271
- Fatty acyl-CoA reductase 1 deficiency ORPHA:438178
- Combined oxidative phosphorylation defect type 23 ORPHA:444013
- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome ORPHA:445038
- Limb-girdle muscular dystrophy due to POMK deficiency ORPHA:445110
- Mitochondrial pyruvate carrier deficiency ORPHA:447784
- 3-methylglutaconic aciduria type 8 ORPHA:505208
- 3-methylglutaconic aciduria type 9 ORPHA:505216
- MEPAN syndrome ORPHA:508093
- Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome ORPHA:478049
- Combined oxidative phosphorylation defect type 27 ORPHA:477774
- Autosomal dominant mitochondrial myopathy with exercise intolerance ORPHA:457050
- ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement ORPHA:457375
- C12ORF65-related combined oxidative phosphorylation defect ORPHA:497623
- Combined oxidative phosphorylation defect type 7 ORPHA:254930
- Autosomal recessive spastic paraplegia type 55 ORPHA:320375
- Alkaline ceramidase 3 deficiency ORPHA:502444
- Lipoic acid synthetase deficiency ORPHA:401859
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ORPHA:436174
- Adenosine monophosphate deaminase deficiency ORPHA:45
- Autosomal recessive spastic paraplegia type 48 ORPHA:306511
- Autosomal recessive spastic paraplegia type 77 ORPHA:466722
- Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome ORPHA:95433
- Progressive polyneuropathy with bilateral striatal necrosis ORPHA:217396
- Mucopolysaccharidosis type 10 ORPHA:662216
- Combined oxidative phosphorylation defect type 25 ORPHA:447954
- Polyglucosan body myopathy type 2 ORPHA:456369
- Polyglucosan body myopathy type 1 ORPHA:397937
- Childhood-onset spasticity with hyperglycinemia ORPHA:401866
- Combined oxidative phosphorylation defect type 30 ORPHA:478042
- Autosomal recessive ataxia due to PEX16 deficiency ORPHA:642954
- Autosomal recessive ataxia due to PEX10 deficiency ORPHA:247815
- Encephalopathy due to mitochondrial and peroxisomal fission defect ORPHA:527276
- DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect ORPHA:330050
- MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect ORPHA:485421
- Auditory neuropathy-optic atrophy syndrome ORPHA:542585
- Neonatal epileptic encephalopathy due to glutaminase deficiency ORPHA:557064
- Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome ORPHA:543470
- Combined oxidative phosphorylation defect type 39 ORPHA:565624
- MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome ORPHA:597874
- WARS2-related combined oxidative phosphorylation defect ORPHA:572798
- Chronic neurovisceral acid sphingomyelinase deficiency ORPHA:618891
- Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome ORPHA:619979
- Neurodegenerative syndrome due to cerebral folate transport deficiency ORPHA:217382
- Paroxysmal extreme pain disorder ORPHA:46348
- Athabaskan brainstem dysgenesis syndrome ORPHA:69739
- Rare central nervous system and retinal vascular disease ORPHA:71281
- Genetic cerebral small vessel disease ORPHA:477754
- Fibrosis-neurodegeneration-cerebral angiomatosis syndrome ORPHA:621758
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ORPHA:247691
- Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome ORPHA:314572
- Cerebral Amyloid Angiopathy ORPHA:85458
- ABeta amyloidosis, Dutch type ORPHA:100006
- ACys amyloidosis ORPHA:100008
- ABetaL34V amyloidosis ORPHA:324703
- ABeta amyloidosis, Iowa type ORPHA:324708
- ABeta amyloidosis, Italian type ORPHA:324713
- ABetaA21G amyloidosis ORPHA:324718
- ABeta amyloidosis, Arctic type ORPHA:324723
- Coats plus syndrome ORPHA:313838
- COL4A1 or COL4A2-related cerebral small vessel disease ORPHA:477759
- COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency ORPHA:477765
- COL4A1/2-related familial vascular leukoencephalopathy ORPHA:36383
- HANAC syndrome ORPHA:73229
- Familial isolated retinal arteriolar tortuosity ORPHA:75326
- Familial porencephaly ORPHA:99810
- Familial schizencephaly ORPHA:481986
- COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency ORPHA:477762
- Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy ORPHA:136
- HTRA1-related cerebral small vessel disease ORPHA:482072
- Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy ORPHA:199354
- HTRA1-related autosomal dominant cerebral small vessel disease ORPHA:482077
- Leukoencephalopathy with calcifications and cysts ORPHA:542310
- Cathepsin A-related arteriopathy-strokes-leukoencephalopathy ORPHA:575553
- Isolated spontaneous cervical artery dissection ORPHA:689001
- Rare idiopathic macular telangiectasia ORPHA:482092
- Idiopathic macular telangiectasia type 1 ORPHA:353344
- Idiopathic macular telangiectasia type 3 ORPHA:353351
- Pseudoxanthoma elasticum ORPHA:758
- Sneddon syndrome ORPHA:820
- Familial exudative vitreoretinopathy ORPHA:891
- Susac syndrome ORPHA:838
- Familial retinal arterial macroaneurysm ORPHA:284247
- Acquired aneurysmal subarachnoid hemorrhage ORPHA:90065
- Neurovascular malformation ORPHA:102006
- Hereditary hemorrhagic telangiectasia ORPHA:774
- Sturge-Weber syndrome ORPHA:3205
- Vein of Galen aneurysmal malformation ORPHA:1053
- Hereditary neurocutaneous malformation ORPHA:1062
- PHACE syndrome ORPHA:42775
- Cerebral arteriovenous malformation ORPHA:46724
- Spinal arteriovenous metameric syndrome ORPHA:53721
- Foix-Alajouanine syndrome ORPHA:79093
- Dural sinus malformation ORPHA:97339
- 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
- Glomuvenous malformation ORPHA:83454
- Familial cerebral saccular aneurysm ORPHA:231160
- Familial cerebral cavernous malformation ORPHA:221061
- Retinal capillary malformation ORPHA:71213
- Internal carotid absence ORPHA:981
- Congenital retinal arteriovenous communication ORPHA:353334
- Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome ORPHA:521445
- Primary angiitis of the central nervous system ORPHA:140989
- IRVAN syndrome ORPHA:209943
- Cerebral sinovenous thrombosis ORPHA:329217
- Vasoproliferative tumor of the retina ORPHA:353356
- Multisystemic smooth muscle dysfunction syndrome ORPHA:404463
- Pediatric arterial ischemic stroke ORPHA:439175
- Cerebral visual impairment ORPHA:447788
- Moyamoya angiopathy ORPHA:477768
- Rare disorder with a moyamoya angiopathy ORPHA:477771
- Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome ORPHA:280679
- Moyamoya disease with early-onset achalasia ORPHA:401945
- Neurofibromatosis type 1 ORPHA:636
- 17q11 microdeletion syndrome ORPHA:97685
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion ORPHA:363700
- Noonan syndrome ORPHA:648
- Costello syndrome ORPHA:3071
- Sickle cell anemia ORPHA:232
- Aicardi-Goutières syndrome ORPHA:51
- Familial Chilblain lupus ORPHA:481662
- Microcephalic osteodysplastic primordial dwarfism type II ORPHA:2637
- Down syndrome ORPHA:870
- Turner syndrome ORPHA:881
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- PHACE syndrome ORPHA:42775
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia ORPHA:363972
- Moyamoya disease ORPHA:2573
- Coats disease ORPHA:190
- Von Hippel-Lindau disease ORPHA:892
- Familial or sporadic hemiplegic migraine ORPHA:569
- Neonatal hypoxic and ischemic brain injury ORPHA:137577
- Complex regional pain syndrome ORPHA:83452
- Rare intellectual disability ORPHA:87277
- Rare non-syndromic intellectual disability ORPHA:101685
- X-linked non-syndromic intellectual disability ORPHA:777
- Autosomal recessive non-syndromic intellectual disability ORPHA:88616
- Autosomal dominant non-syndromic intellectual disability ORPHA:178469
- Rare syndromic intellectual disability ORPHA:102369
- Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome ORPHA:611314
- Cleft lip/palate-ectodermal dysplasia syndrome ORPHA:3253
- Alpha-mannosidosis ORPHA:61
- Alpers-Huttenlocher syndrome ORPHA:726
- MIRAGE syndrome ORPHA:494433
- Infantile-onset generalized dyskinesia with orofacial involvement ORPHA:494526
- Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ORPHA:168566
- Allan-Herndon-Dudley syndrome ORPHA:59
- X-linked progressive cerebellar ataxia ORPHA:1175
- Lethal ataxia with deafness and optic atrophy ORPHA:1187
- Monoamine oxidase A deficiency ORPHA:3057
- Birk-Barel syndrome ORPHA:166108
- Hereditary cryohydrocytosis with reduced stomatin ORPHA:168577
- MEDNIK syndrome ORPHA:171851
- EAST syndrome ORPHA:199343
- Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome ORPHA:488613
- Early-onset epilepsy-intellectual disability-brain anomalies syndrome ORPHA:488635
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome ORPHA:496756
- Ocular anomalies-axonal neuropathy-developmental delay syndrome ORPHA:496790
- C12ORF65-related combined oxidative phosphorylation defect ORPHA:497623
- Combined oxidative phosphorylation defect type 7 ORPHA:254930
- Autosomal recessive spastic paraplegia type 55 ORPHA:320375
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder ORPHA:500180
- Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract ORPHA:500545
- 3-methylglutaconic aciduria type 9 ORPHA:505216
- CDKL5-deficiency disorder ORPHA:505652
- Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction ORPHA:506353
- Congenital cerebellar ataxia due to RNU12 mutation ORPHA:512260
- Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome ORPHA:521390
- Dystonia-parkinsonism-hypermanganesemia syndrome ORPHA:521406
- Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome ORPHA:522077
- Encephalopathy due to mitochondrial and peroxisomal fission defect ORPHA:527276
- DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect ORPHA:330050
- MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect ORPHA:485421
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy ORPHA:527497
- 9q21.13 microdeletion syndrome ORPHA:531151
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:536467
- Growth delay-intellectual disability-hepatopathy syndrome ORPHA:541423
- GNB5-related intellectual disability-cardiac arrhythmia syndrome ORPHA:542306
- Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome ORPHA:543470
- SYNGAP1-related developmental and epileptic encephalopathy ORPHA:544254
- FOXG1 syndrome ORPHA:561854
- FOXG1 syndrome due to intragenic alteration ORPHA:598164
- FOXG1 syndrome due to 14q12 microdeletion ORPHA:261144
- Primary hypomagnesemia-refractory seizures-intellectual disability syndrome ORPHA:564178
- Combined oxidative phosphorylation defect type 39 ORPHA:565624
- Infantile inflammatory bowel disease with neurological involvement ORPHA:565788
- POMGNT2-related limb-girdle muscular dystrophy R24 ORPHA:565899
- WARS2-related combined oxidative phosphorylation defect ORPHA:572798
- Serine biosynthesis pathway deficiency, infantile/juvenile form ORPHA:583595
- 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form ORPHA:79351
- 3-phosphoserine phosphatase deficiency, infantile/juvenile form ORPHA:79350
- Phosphoserine aminotransferase deficiency, infantile/juvenile form ORPHA:284417
- PUM1-associated developmental disability-ataxia-seizure syndrome ORPHA:589515
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder ORPHA:589547
- Dystonia 28 ORPHA:589618
- Congenital-onset Steinert myotonic dystrophy ORPHA:589821
- Childhood-onset Steinert myotonic dystrophy ORPHA:589824
- Juvenile-onset Steinert myotonic dystrophy ORPHA:589827
- Adult-onset Steinert myotonic dystrophy ORPHA:589830
- GNAO1-related developmental delay-seizures-movement disorder spectrum ORPHA:592564
- MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome ORPHA:597874
- STXBP1-related encephalopathy ORPHA:599373
- Hypomyelination of early myelinating structures ORPHA:599376
- NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance ORPHA:600663
- CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome ORPHA:610573
- Aplastic anemia-intellectual disability-dwarfism syndrome ORPHA:611216
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome ORPHA:502423
- Autosomal recessive spastic ataxia with leukoencephalopathy ORPHA:314603
- COASY protein-associated neurodegeneration ORPHA:397725
- 3-methylglutaconic aciduria type 8 ORPHA:505208
- Methionine adenosyltransferase I/III deficiency ORPHA:168598
- Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome ORPHA:620363
- Methylcobalamin deficiency type cblE ORPHA:2169
- Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome ORPHA:486815
- Pancreatic hypoplasia-diabetes-congenital heart disease syndrome ORPHA:2255
- Bilateral striopallidodentate calcinosis ORPHA:1980
- Congenital brain dysgenesis due to glutamine synthetase deficiency ORPHA:71278
- GM1 gangliosidosis ORPHA:354
- GM1 gangliosidosis type 1 ORPHA:79255
- GM1 gangliosidosis type 2 ORPHA:79256
- GM1 gangliosidosis type 3 ORPHA:79257
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency ORPHA:88639
- MPI-CDG ORPHA:79319
- Genetic epilepsy with febrile seizure plus ORPHA:36387
- Hereditary folate malabsorption ORPHA:90045
- RIDDLE syndrome ORPHA:420741
- Growth delay due to insulin-like growth factor I resistance ORPHA:73273
- Björnstad syndrome ORPHA:123
- Autosomal recessive ataxia, Beauce type ORPHA:88644
- Aspartylglucosaminuria ORPHA:93
- Fucosidosis ORPHA:349
- Beta-mannosidosis ORPHA:118
- Sialidosis type 1 ORPHA:812
- Farber disease ORPHA:333
- Autosomal recessive spastic paraplegia type 46 ORPHA:320391
- Isovaleric acidemia ORPHA:33
- Spinocerebellar ataxia type 21 ORPHA:98773
- Emery-Dreifuss muscular dystrophy ORPHA:261
- Autosomal dominant Emery-Dreifuss muscular dystrophy ORPHA:98853
- Autosomal recessive Emery-Dreifuss muscular dystrophy ORPHA:98855
- X-linked Emery-Dreifuss muscular dystrophy ORPHA:98863
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency ORPHA:412057
- Peroxisomal acyl-CoA oxidase deficiency ORPHA:2971
- Sjögren-Larsson syndrome ORPHA:816
- Retinitis pigmentosa ORPHA:791
- Stormorken-Sjaastad-Langslet syndrome ORPHA:3204
- TMEM70-related mitochondrial encephalo-cardio-myopathy ORPHA:1194
- Cerebellar ataxia, Cayman type ORPHA:94122
- Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy ORPHA:79096
- Mitochondrial neurogastrointestinal encephalomyopathy ORPHA:298
- Mucopolysaccharidosis type 7 ORPHA:584
- Mucolipidosis type IV ORPHA:578
- Sturge-Weber syndrome ORPHA:3205
- Free sialic acid storage disease ORPHA:834
- Free sialic acid storage disease, infantile form ORPHA:309324
- Intermediate severe Salla disease ORPHA:309331
- Salla disease ORPHA:309334
- 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
- Glutathione synthetase deficiency ORPHA:32
- Glutathione synthetase deficiency with 5-oxoprolinuria ORPHA:289846
- Glutathione synthetase deficiency without 5-oxoprolinuria ORPHA:289849
- Bloom syndrome ORPHA:125
- MELAS ORPHA:550
- Pyruvate carboxylase deficiency ORPHA:3008
- Pyruvate carboxylase deficiency, infantile type ORPHA:353308
- Pyruvate carboxylase deficiency, severe neonatal type ORPHA:353314
- Pyruvate carboxylase deficiency, benign type ORPHA:353320
- Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome ORPHA:641361
- 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
- Hao-Fountain syndrome ORPHA:643549
- Hao-Fountain syndrome due to USP7 mutation ORPHA:643538
- Hao-Fountain syndrome due to 16p13.2 microdeletion ORPHA:500055
- Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome ORPHA:647788
- MYT1L-related developmental delay-intellectual disability-obesity syndrome ORPHA:647799
- Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome ORPHA:660017
- Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation ORPHA:660012
- Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion ORPHA:1617
- Congenital muscular dystrophy-cataract-intellectual disability syndrome ORPHA:662184
- Actinomyopathy-associated syndromic thrombocytopenia ORPHA:674653
- Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency ORPHA:675767
- Mucopolysaccharidosis type 10 ORPHA:662216
- NESCAV syndrome ORPHA:662367
- Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency ORPHA:664511
- Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome ORPHA:684240
- Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome ORPHA:686999
- Marbach-Schaaf neurodevelopmental syndrome ORPHA:692173
- Congenital cataract-hearing loss-severe developmental delay syndrome ORPHA:300313
- Woodhouse-Sakati syndrome ORPHA:3464
- Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome ORPHA:3240
- Infantile bilateral striatal necrosis ORPHA:1576
- Sporadic infantile bilateral striatal necrosis ORPHA:225147
- Familial infantile bilateral striatal necrosis ORPHA:225154
- CEDNIK syndrome ORPHA:66631
- Growth delay due to insulin-like growth factor type 1 deficiency ORPHA:73272
- MORM syndrome ORPHA:75858
- Hypomyelination-congenital cataract syndrome ORPHA:85163
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome ORPHA:90103
- Autosomal recessive proximal renal tubular acidosis ORPHA:93607
- Rett syndrome ORPHA:778
- Norrie disease ORPHA:649
- Aicardi syndrome ORPHA:50
- Incontinentia pigmenti ORPHA:464
- X-linked centronuclear myopathy ORPHA:596
- Isolated complex I deficiency ORPHA:2609
- X-linked intellectual disability-epilepsy syndrome ORPHA:2076
- X-linked intellectual disability, Hedera type ORPHA:93952
- Female restricted epilepsy with intellectual disability ORPHA:101039
- Hyperekplexia-epilepsy syndrome ORPHA:163985
- Atypical Rett syndrome ORPHA:3095
- Mohr-Tranebjaerg syndrome ORPHA:52368
- 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
- X-linked intellectual disability with isolated growth hormone deficiency ORPHA:67045
- X-linked intellectual disability, Cantagrel type ORPHA:85277
- X-linked intellectual disability, Wilson type ORPHA:85290
- X-linked spinocerebellar ataxia type 4 ORPHA:85292
- X-linked epilepsy-learning disabilities-behavior disorders syndrome ORPHA:85294
- X-linked intellectual disability-retinitis pigmentosa syndrome ORPHA:85332
- X-linked neurodegenerative syndrome, Bertini type ORPHA:85334
- X-linked neurodegenerative syndrome, Hamel type ORPHA:85336
- X-linked intellectual disability-ataxia-apraxia syndrome ORPHA:85338
- Partington syndrome ORPHA:94083
- Early-onset X-linked optic atrophy ORPHA:98890
- FRAXE intellectual disability ORPHA:100973
- Rolandic epilepsy-speech dyspraxia syndrome ORPHA:163721
- Oculocerebrorenal syndrome of Lowe ORPHA:534
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Ornithine transcarbamylase deficiency ORPHA:664
- Menkes disease ORPHA:565
- Danon disease ORPHA:34587
- X-linked cerebral adrenoleukodystrophy ORPHA:139396
- Hypoxanthine-guanine phosphoribosyltransferase deficiency ORPHA:206428
- Lesch-Nyhan syndrome ORPHA:510
- Hypoxanthine guanine phosphoribosyltransferase partial deficiency ORPHA:79233
- SLC35A2-CDG ORPHA:356961
- X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency ORPHA:423479
- CK syndrome ORPHA:251383
- 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
- X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome ORPHA:324410
- HSD10 disease ORPHA:391417
- HSD10 disease, atypical type ORPHA:85295
- HSD10 disease, infantile type ORPHA:391428
- HSD10 disease, neonatal type ORPHA:391457
- Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome ORPHA:397933
- X-linked myotubular myopathy-abnormal genitalia syndrome ORPHA:456328
- X-linked intellectual disability-hypotonia-movement disorder syndrome ORPHA:457260
- CLCN4-related X-linked intellectual disability syndrome ORPHA:485350
- Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 ORPHA:98791
- ANE syndrome ORPHA:157954
- Zellweger-like syndrome without peroxisomal anomalies ORPHA:50812
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ORPHA:137898
- PMM2-CDG ORPHA:79318
- ALG3-CDG ORPHA:79321
- MPDU1-CDG ORPHA:79323
- ALG8-CDG ORPHA:79325
- ALG2-CDG ORPHA:79326
- ALG1-CDG ORPHA:79327
- MGAT2-CDG ORPHA:79329
- DPAGT1-CDG ORPHA:86309
- POMT1-related limb-girdle muscular dystrophy R11 ORPHA:86812
- COG8-CDG ORPHA:95428
- Leukocyte adhesion deficiency type II ORPHA:99843
- POMT2-related limb-girdle muscular dystrophy R14 ORPHA:206559
- SLC35A1-CDG ORPHA:238459
- RFT1-CDG ORPHA:244310
- COG5-CDG ORPHA:263487
- COG4-CDG ORPHA:263501
- ALG11-CDG ORPHA:280071
- Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 ORPHA:280333
- SRD5A3-CDG ORPHA:324737
- Congenital muscular dystrophy with intellectual disability and severe epilepsy ORPHA:329178
- ISPD-related limb-girdle muscular dystrophy R20 ORPHA:352479
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- Temtamy preaxial brachydactyly syndrome ORPHA:363417
- GMPPB-related limb-girdle muscular dystrophy R19 ORPHA:363623
- STT3A-CDG ORPHA:370921
- STT3B-CDG ORPHA:370924
- GM3 synthase deficiency ORPHA:370933
- Autism spectrum disorder-epilepsy-arthrogryposis syndrome ORPHA:370943
- Congenital muscular dystrophy with cerebellar involvement ORPHA:370959
- Congenital muscular dystrophy with intellectual disability ORPHA:370968
- MAN1B1-CDG ORPHA:397941
- PGM3-CDG ORPHA:443811
- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome ORPHA:445038
- Combined oxidative phosphorylation defect type 27 ORPHA:477774
- Brain-lung-thyroid syndrome ORPHA:209905
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome ORPHA:231556
- Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome ORPHA:263410
- Spinocerebellar ataxia type 32 ORPHA:276183
- Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome ORPHA:280384
- Severe intellectual disability and progressive spastic paraplegia ORPHA:280763
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation ORPHA:289266
- Intellectual disability-alacrima-achalasia syndrome ORPHA:289483
- Distal Xq28 microduplication syndrome ORPHA:293939
- 1p21.3 microdeletion syndrome ORPHA:293948
- Neonatal inflammatory skin and bowel disease ORPHA:294023
- Non-progressive cerebellar ataxia with intellectual disability ORPHA:314647
- Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome ORPHA:352333
- ANK3-related intellectual disability-sleep disturbance syndrome ORPHA:356996
- Primary non-essential cutis verticis gyrata ORPHA:357225
- Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome ORPHA:363523
- Intellectual disability-hyperkinetic movement-truncal ataxia syndrome ORPHA:369847
- Neutral lipid storage disease with ichthyosis ORPHA:98907
- Combined malonic and methylmalonic acidemia ORPHA:289504
- Autosomal recessive ataxia due to ubiquinone deficiency ORPHA:139485
- Severe X-linked mitochondrial encephalomyopathy ORPHA:238329
- Succinic semialdehyde dehydrogenase deficiency ORPHA:22
- ALG12-CDG ORPHA:79324
- ALG6-CDG ORPHA:79320
- ALG9-CDG ORPHA:79328
- Adult-onset autosomal recessive cerebellar ataxia ORPHA:284289
- 3-methylglutaconic aciduria type 1 ORPHA:67046
- Saethre-Chotzen syndrome ORPHA:794
- Hereditary methemoglobinemia ORPHA:621
- Autosomal recessive spastic paraplegia type 54 ORPHA:320380
- Duchenne muscular dystrophy ORPHA:98896
- Dilated cardiomyopathy with ataxia ORPHA:66634
- DPM1-CDG ORPHA:79322
- Autosomal spastic paraplegia type 18 ORPHA:209951
- Ethylmalonic encephalopathy ORPHA:51188
- Classic galactosemia ORPHA:79239
- Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency ORPHA:324262
- Progressive myoclonic epilepsy type 3 ORPHA:263516
- L-2-hydroxyglutaric aciduria ORPHA:79314
- Laminin subunit alpha 2-related congenital muscular dystrophy ORPHA:258
- NARP syndrome ORPHA:644
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome ORPHA:88637
- Dravet syndrome ORPHA:33069
- Paroxysmal exertion-induced dyskinesia ORPHA:98811
- Autosomal recessive cerebellar ataxia-psychomotor delay syndrome ORPHA:284271
- Tyrosinemia type 2 ORPHA:28378
- Familial infantile myoclonic epilepsy ORPHA:352582
- Autosomal recessive spastic paraplegia type 15 ORPHA:100996
- ALG13-CDG ORPHA:324422
- Autosomal recessive spastic paraplegia type 26 ORPHA:101006
- Progressive external ophthalmoplegia-myopathy-emaciation syndrome ORPHA:352447
- Proximal myopathy with extrapyramidal signs ORPHA:401768
- Spinocerebellar ataxia type 14 ORPHA:98763
- Autosomal recessive dopa-responsive dystonia ORPHA:101150
- Beta-propeller protein-associated neurodegeneration ORPHA:329284
- Autosomal recessive spastic paraplegia type 20 ORPHA:101000
- Hereditary sensory and autonomic neuropathy due to TECPR2 mutation ORPHA:320385
- Progressive myoclonic epilepsy type 1 ORPHA:308
- DDOST-CDG ORPHA:300536
- Aminoacylase 1 deficiency ORPHA:137754
- Infantile dystonia-parkinsonism ORPHA:238455
- Posterior column ataxia-retinitis pigmentosa syndrome ORPHA:88628
- DPM3-CDG ORPHA:263494
- Autosomal recessive spastic paraplegia type 53 ORPHA:319199
- AICA-ribosiduria ORPHA:250977
- Refsum disease ORPHA:773
- Non-syndromic bicoronal craniosynostosis ORPHA:35099
- Chronic visceral acid sphingomyelinase deficiency ORPHA:77293
- Autosomal recessive hyperinsulinism due to Kir6.2 deficiency ORPHA:79644
- Homocystinuria due to cystathionine beta-synthase deficiency ORPHA:394
- Pseudohypoparathyroidism type 1A ORPHA:79443
- Trichothiodystrophy ORPHA:33364
- Mevalonic aciduria ORPHA:29
- Ataxia-telangiectasia ORPHA:100
- Presynaptic congenital myasthenic syndromes ORPHA:98914
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome ORPHA:330054
- Early-onset obesity-hyperphagia-severe developmental delay syndrome ORPHA:99704
- Pituitary stalk interruption syndrome ORPHA:95496
- Autosomal dominant dopa-responsive dystonia ORPHA:98808
- Isolated permanent neonatal diabetes mellitus ORPHA:99885
- Autosomal dominant spastic paraplegia type 10 ORPHA:100991
- CNTNAP2-related developmental and epileptic encephalopathy ORPHA:163681
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease ORPHA:163746
- Hyperprolinemia type 1 ORPHA:419
- Timothy syndrome ORPHA:65283
- Timothy syndrome type 1 ORPHA:595098
- Timothy syndrome type 2 ORPHA:595105
- Atypical Timothy syndrome ORPHA:595109
- 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
- Infantile neurovisceral acid sphingomyelinase deficiency ORPHA:77292
- Isolated cytochrome C oxidase deficiency ORPHA:254905
- Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ORPHA:477814
- Glycine encephalopathy ORPHA:407
- Neonatal glycine encephalopathy ORPHA:289857
- Infantile glycine encephalopathy ORPHA:289860
- Atypical glycine encephalopathy ORPHA:289863
- Mucopolysaccharidosis type 1 ORPHA:579
- Legius syndrome ORPHA:137605
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy ORPHA:255235
- MOGS-CDG ORPHA:79330
- Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome ORPHA:652487
- Encephalopathy due to sulfite oxidase deficiency ORPHA:833
- Isolated sulfite oxidase deficiency ORPHA:99731
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency ORPHA:99732
- Knobloch syndrome ORPHA:1571
- Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome ORPHA:641353
- Osteopetrosis with renal tubular acidosis ORPHA:2785
- CINCA syndrome ORPHA:1451
- Xeroderma pigmentosum ORPHA:910
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency ORPHA:713
- Adenylosuccinate lyase deficiency ORPHA:46
- 3p25.3 microdeletion syndrome ORPHA:435638
- RARS-related autosomal recessive hypomyelinating leukodystrophy ORPHA:438114
- PCNA-related progressive neurodegenerative photosensitivity syndrome ORPHA:438134
- Fatty acyl-CoA reductase 1 deficiency ORPHA:438178
- Combined oxidative phosphorylation defect type 23 ORPHA:444013
- Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ORPHA:457351
- Seizures-scoliosis-macrocephaly syndrome ORPHA:466926
- VPS11-related autosomal recessive hypomyelinating leukodystrophy ORPHA:466934
- Intellectual disability-epilepsy-extrapyramidal syndrome ORPHA:468620
- Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome ORPHA:477673
- Intellectual disability-expressive aphasia-facial dysmorphism syndrome ORPHA:436151
- Early infantile developmental and epileptic encephalopathy ORPHA:1934
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome ORPHA:415
- Autosomal recessive spastic paraplegia type 64 ORPHA:401810
- Lennox-Gastaut syndrome ORPHA:2382
- KCNQ2-related developmental and epileptic encephalopathy ORPHA:439218
- Non-specific early-onset epileptic encephalopathy ORPHA:442835
- Epilepsy with myoclonic-atonic seizures ORPHA:1942
- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome ORPHA:466794
- Autosomal recessive spastic paraplegia type 75 ORPHA:459056
- Familial thyroid dyshormonogenesis ORPHA:95716
- Pyridoxine-dependent-developmental and epileptic encephalopathy ORPHA:3006
- Hyperammonemia due to N-acetylglutamate synthase deficiency ORPHA:927
- Carnitine-acylcarnitine translocase deficiency ORPHA:159
- Isolated succinate-CoQ reductase deficiency ORPHA:3208
- Familial acute necrotizing encephalopathy ORPHA:88619
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ORPHA:1933
- Familial glucocorticoid deficiency ORPHA:361
- Ataxia-telangiectasia-like disorder ORPHA:251347
- Autosomal recessive spastic paraplegia type 45 ORPHA:320396
- Autosomal recessive spastic paraplegia type 56 ORPHA:320411
- Spectrin-associated autosomal recessive cerebellar ataxia ORPHA:352403
- Brain dopamine-serotonin vesicular transport disease ORPHA:352649
- Leber congenital amaurosis ORPHA:65
- Hartnup disease ORPHA:2116
- Vitamin B12-unresponsive methylmalonic acidemia ORPHA:27
- Vitamin B12-unresponsive methylmalonic acidemia type mut- ORPHA:79312
- Vitamin B12-unresponsive methylmalonic acidemia type mut0 ORPHA:289916
- Fatal infantile cytochrome C oxidase deficiency ORPHA:1561
- Griscelli syndrome ORPHA:381
- Griscelli syndrome type 1 ORPHA:79476
- Griscelli syndrome type 2 ORPHA:79477
- Griscelli syndrome type 3 ORPHA:79478
- Maple syrup urine disease ORPHA:511
- Classic maple syrup urine disease ORPHA:268145
- Intermediate maple syrup urine disease ORPHA:268162
- Intermittent maple syrup urine disease ORPHA:268173
- Thiamine-responsive maple syrup urine disease ORPHA:268184
- Isolated complex III deficiency ORPHA:1460
- Cerebrotendinous xanthomatosis ORPHA:909
- Dyskeratosis congenita ORPHA:1775
- Pelizaeus-Merzbacher disease ORPHA:702
- Pelizaeus-Merzbacher disease, connatal form ORPHA:280210
- Pelizaeus-Merzbacher disease, classic form ORPHA:280219
- Pelizaeus-Merzbacher disease, transitional form ORPHA:280224
- Pelizaeus-Merzbacher disease in female carriers ORPHA:280229
- Null syndrome ORPHA:280234
- Laryngeal abductor paralysis-intellectual disability syndrome ORPHA:2375
- Early-onset parkinsonism-intellectual disability syndrome ORPHA:2379
- Autosomal recessive spastic paraplegia type 9B ORPHA:447760
- Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome ORPHA:447997
- Congenital insensitivity to pain with severe intellectual disability ORPHA:453510
- Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency ORPHA:453521
- Polyendocrine-polyneuropathy syndrome ORPHA:453533
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome ORPHA:480864
- Aniridia-cerebellar ataxia-intellectual disability syndrome ORPHA:1065
- Tuberous sclerosis complex ORPHA:805
- Aicardi-Goutières syndrome ORPHA:51
- Alopecia-epilepsy-pyorrhea-intellectual disability syndrome ORPHA:1008
- Ataxia-deafness-intellectual disability syndrome ORPHA:1188
- Infantile choroidocerebral calcification syndrome ORPHA:1313
- Cataract-hypertrichosis-intellectual disability syndrome ORPHA:1375
- Prolidase deficiency ORPHA:742
- Dysequilibrium syndrome ORPHA:1766
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome ORPHA:2269
- Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome ORPHA:2435
- Moynahan syndrome ORPHA:2574
- Spastic paraplegia-glaucoma-intellectual disability syndrome ORPHA:2818
- Autosomal recessive spastic paraplegia type 11 ORPHA:2822
- Alopecia-intellectual disability syndrome ORPHA:2850
- Piebald trait-neurologic defects syndrome ORPHA:2885
- Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome ORPHA:3011
- Intellectual disability-myopathy-short stature-endocrine defect syndrome ORPHA:3068
- Argininosuccinic aciduria ORPHA:23
- ICF syndrome ORPHA:2268
- Hereditary sensory and autonomic neuropathy type 4 ORPHA:642
- Purine nucleoside phosphorylase deficiency ORPHA:760
- Mitochondrial myopathy and sideroblastic anemia ORPHA:2598
- Autosomal recessive cerebelloparenchymal disorder type 3 ORPHA:1170
- Giant axonal neuropathy ORPHA:643
- Familial congenital mirror movements ORPHA:238722
- Hereditary orotic aciduria ORPHA:30
- Dopa-responsive dystonia due to sepiapterin reductase deficiency ORPHA:70594
- Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency ORPHA:363432
- Beta-ketothiolase deficiency ORPHA:134
- Multiple benign circumferential skin creases on limbs ORPHA:2505
- Microcephaly-lymphedema-chorioretinopathy syndrome ORPHA:2526
- Amelocerebrohypohidrotic syndrome ORPHA:1946
- Marinesco-Sjögren syndrome ORPHA:559
- Triple A syndrome ORPHA:869
- Alström syndrome ORPHA:64
- Diamond-Blackfan anemia ORPHA:124
- Acrogeria ORPHA:2500
- Moyamoya disease ORPHA:2573
- Osteopathia striata-cranial sclerosis syndrome ORPHA:2780
- Alpha-N-acetylgalactosaminidase deficiency ORPHA:3137
- Alpha-N-acetylgalactosaminidase deficiency type 1 ORPHA:79279
- Alpha-N-acetylgalactosaminidase deficiency type 2 ORPHA:79280
- Alpha-N-acetylgalactosaminidase deficiency type 3 ORPHA:79281
- Methylmalonic acidemia with homocystinuria ORPHA:26
- Methylmalonic acidemia with homocystinuria, type cblC ORPHA:79282
- Methylmalonic acidemia with homocystinuria, type cblD ORPHA:79283
- Methylmalonic acidemia with homocystinuria type cblF ORPHA:79284
- Methylmalonic acidemia with homocystinuria, type cblJ ORPHA:369955
- Methylmalonic acidemia with homocystinuria, type cblX ORPHA:369962
- Hereditary bullous dystrophy, macular type ORPHA:1867
- X-linked intellectual disability-psychosis-macroorchidism syndrome ORPHA:3077
- X-linked spasticity-intellectual disability-epilepsy syndrome ORPHA:3175
- Hoyeraal-Hreidarsson syndrome ORPHA:3322
- Pyruvate dehydrogenase deficiency ORPHA:765
- Pyruvate dehydrogenase E3 deficiency ORPHA:2394
- Pyruvate dehydrogenase E1-alpha deficiency ORPHA:79243
- Pyruvate dehydrogenase E2 deficiency ORPHA:79244
- Pyruvate dehydrogenase phosphatase deficiency ORPHA:79246
- Pyruvate dehydrogenase E1-beta deficiency ORPHA:255138
- Pyruvate dehydrogenase E3-binding protein deficiency ORPHA:255182
- Phosphoribosylpyrophosphate synthetase superactivity ORPHA:3222
- Mild phosphoribosylpyrophosphate synthetase superactivity ORPHA:411536
- Severe phosphoribosylpyrophosphate synthetase superactivity ORPHA:411543
- Guanidinoacetate methyltransferase deficiency ORPHA:382
- Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome ORPHA:370022
- Proximal 16p11.2 microduplication syndrome ORPHA:370079
- Optic atrophy-intellectual disability syndrome ORPHA:401777
- Alacrimia-choreoathetosis-liver dysfunction syndrome ORPHA:404454
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome ORPHA:404481
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency ORPHA:284282
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency ORPHA:404493
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency ORPHA:404499
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome ORPHA:412069
- Septo-optic dysplasia spectrum ORPHA:3157
- Hereditary hyperekplexia ORPHA:3197
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disability ORPHA:102283
- X-linked intellectual disability, Stevenson type ORPHA:85325
- X-linked intellectual disability, Stoll type ORPHA:85326
- X-linked intellectual disability-acromegaly-hyperactivity syndrome ORPHA:85327
- 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
- Otopalatodigital syndrome type 1 ORPHA:90650
- Otopalatodigital syndrome type 2 ORPHA:90652
- X-linked intellectual disability-cerebellar hypoplasia syndrome ORPHA:137831
- 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
- X-linked creatine transporter deficiency ORPHA:52503
- Symptomatic form of Coffin-Lowry syndrome in female carriers ORPHA:276630
- Multiple congenital anomalies-hypotonia-seizures syndrome type 2 ORPHA:300496
- X-linked intellectual disability due to GRIA3 mutations ORPHA:364028
- SSR4-CDG ORPHA:370927
- X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome ORPHA:431140
- X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome ORPHA:435938
- 48,XYYY syndrome ORPHA:99329
- 17q11.2 microduplication syndrome ORPHA:139474
- Biemond syndrome type 2 ORPHA:141333
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome ORPHA:163649
- Spondyloepiphyseal dysplasia tarda, Kohn type ORPHA:163665
- Smith-Lemli-Opitz syndrome ORPHA:818
- Sialidosis type 2 ORPHA:87876
- CHIME syndrome ORPHA:3474
- Multiple congenital anomalies-hypotonia-seizures syndrome ORPHA:280633
- XYLT1-CDG ORPHA:370930
- 15q13.3 microdeletion syndrome ORPHA:199318
- Macrocephaly-intellectual disability-autism syndrome ORPHA:210548
- 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
- Hyperphosphatasia-intellectual disability syndrome ORPHA:247262
- 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
- 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
- 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
- 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
- SMARCA2-related blepharophimosis-intellectual disability syndrome ORPHA:637013
- 3MC syndrome ORPHA:293843
- 11p15.4 microduplication syndrome ORPHA:300305
- 20p13 microdeletion syndrome ORPHA:313781
- Jawad syndrome ORPHA:313795
- 2q23.1 microduplication syndrome ORPHA:313947
- 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
- 9p13 microdeletion syndrome ORPHA:324313
- 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
- Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome ORPHA:352530
- 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
- Intellectual disability-strabismus syndrome ORPHA:363528
- 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
- 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
- Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ORPHA:369939
- Intellectual disability-seizures-macrocephaly-obesity syndrome ORPHA:369950
- Intellectual disability-facial dysmorphism-hand anomalies syndrome ORPHA:370010
- Hypotonia-speech impairment-severe cognitive delay syndrome ORPHA:371364
- Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome ORPHA:391307
- FOXP1 Syndrome ORPHA:391372
- Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome ORPHA:391408
- Macrocephaly-developmental delay syndrome ORPHA:397612
- 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
- MEND syndrome ORPHA:401973
- 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
- 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
- Orofaciodigital syndrome type 14 ORPHA:434179
- Keppen-Lubinsky syndrome ORPHA:435628
- HIDEA syndrome ORPHA:436141
- Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome ORPHA:436245
- 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
- PYCR2-related microcephaly-progressive leukoencephalopathy ORPHA:481152
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ORPHA:496641
- LIG4 syndrome ORPHA:99812
- Occipital horn syndrome ORPHA:198
- PHACE syndrome ORPHA:42775
- Char syndrome ORPHA:46627
- Branchiogenic deafness syndrome ORPHA:50815
- Potocki-Shaffer syndrome ORPHA:52022
- Carpenter syndrome ORPHA:65759
- Bosley-Salih-Alorainy syndrome ORPHA:69737
- Anophthalmia/microphthalmia-esophageal atresia syndrome ORPHA:77298
- Robinow syndrome ORPHA:97360
- King-Denborough syndrome ORPHA:99741
- Combined immunodeficiency with facio-oculo-skeletal anomalies ORPHA:221139
- Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome ORPHA:280679
- 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
- Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome ORPHA:496693
- COG1-CDG ORPHA:263508
- Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome ORPHA:314555
- Joubert syndrome with ocular defect ORPHA:220493
- Muenke syndrome ORPHA:53271
- 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
- Frontonasal dysplasia-alopecia-genital anomalies syndrome ORPHA:228390
- ARX-related encephalopathy-brain malformation spectrum ORPHA:423655
- Corpus callosum agenesis-abnormal genitalia syndrome ORPHA:2508
- X-linked lissencephaly with abnormal genitalia ORPHA:452
- Desmosterolosis ORPHA:35107
- Overgrowth-macrocephaly-facial dysmorphism syndrome ORPHA:137634
- Shwachman-Diamond syndrome ORPHA:811
- Brachydactyly-nystagmus-cerebellar ataxia syndrome ORPHA:1246
- 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
- Distal deletion 1q syndrome ORPHA:36367
- Megalencephaly-capillary malformation-polymicrogyria syndrome ORPHA:60040
- 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 phosphoserine aminotransferase deficiency ORPHA:583602
- Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency ORPHA:583607
- Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency ORPHA:583612
- 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
- Lipodystrophy-intellectual disability-deafness syndrome ORPHA:50811
- 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
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
- Microphthalmia-brain atrophy syndrome ORPHA:77299
- Grange syndrome ORPHA:79094
- Mandibulofacial dysostosis-microcephaly syndrome ORPHA:79113
- Seizures-intellectual disability due to hydroxylysinuria syndrome ORPHA:79156
- CAMOS syndrome ORPHA:83472
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome ORPHA:83617
- Keutel syndrome ORPHA:85202
- S-adenosylhomocysteine hydrolase deficiency ORPHA:88618
- Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia ORPHA:94066
- Distal deletion 6p syndrome ORPHA:96125
- Koolen-De Vries syndrome ORPHA:96169
- Koolen-De Vries syndrome due to a point mutation ORPHA:363965
- 17q21.31 microdeletion syndrome ORPHA:363958
- 48,XXXY syndrome ORPHA:96263
- 49,XXXXY syndrome ORPHA:96264
- Bohring-Opitz syndrome ORPHA:97297
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ORPHA:52055
- 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
- MEHMO syndrome ORPHA:85282
- X-linked intellectual disability, Miles-Carpenter type ORPHA:85283
- BRESEK syndrome ORPHA:85284
- X-linked intellectual disability, Schimke type ORPHA:85285
- X-linked intellectual disability, Shashi type ORPHA:85286
- X-linked intellectual disability, Siderius type ORPHA:85287
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ORPHA:83473
- COG7-CDG ORPHA:79333
- X-linked intellectual disability, Stocco Dos Santos type ORPHA:85288
- X-linked intellectual disability, Cabezas type ORPHA:85293
- X-linked spinocerebellar ataxia type 3 ORPHA:85297
- X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome ORPHA:85317
- X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome ORPHA:85319
- X-linked intellectual disability-macrocephaly-macroorchidism syndrome ORPHA:85320
- Deafness-intellectual disability syndrome, Martin-Probst type ORPHA:85321
- X-linked intellectual disability, Pai type ORPHA:85322
- X-linked intellectual disability, Seemanova type ORPHA:85323
- X-linked intellectual disability, Shrimpton type ORPHA:85324
- Hurler syndrome ORPHA:93473
- Spondylo-ocular syndrome ORPHA:85194
- Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome ORPHA:589442
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome ORPHA:589856
- Restrictive dermopathy ORPHA:1662
- Toriello-Carey syndrome ORPHA:3338
- 17q24.2 microdeletion syndrome ORPHA:529962
- Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom ORPHA:500159
- Oculoskeletodental syndrome ORPHA:557003
- Witteveen-Kolk syndrome ORPHA:500163
- 15q24 microdeletion syndrome ORPHA:94065
- SIN3-related intellectual disability syndrome due to a point mutation ORPHA:500166
- Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome ORPHA:500533
- Weiss-Kruszka Syndrome ORPHA:502430
- Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome ORPHA:1236
- Behr syndrome ORPHA:1239
- Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome ORPHA:1964
- Pitt-Hopkins syndrome ORPHA:2896
- Orofaciodigital syndrome type 5 ORPHA:2919
- STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome ORPHA:502434
- Megalocornea-intellectual disability syndrome ORPHA:2479
- 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
- Congenital generalized lipodystrophy ORPHA:528
- Joubert syndrome ORPHA:475
- Autosomal recessive primary microcephaly ORPHA:2512
- Fanconi anemia ORPHA:84
- Fraser syndrome ORPHA:2052
- Alopecia-contractures-dwarfism-intellectual disability syndrome ORPHA:1005
- 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 a point mutation ORPHA:411511
- Angelman syndrome due to imprinting defect in 15q11-q13 ORPHA:411515
- Williams syndrome ORPHA:904
- Mucolipidosis type II ORPHA:576
- 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
- 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
- Fibrodysplasia ossificans progressiva ORPHA:337
- Trichorhinophalangeal syndrome type 2 ORPHA:502
- Dyggve-Melchior-Clausen disease ORPHA:239
- Laurence-Moon syndrome ORPHA:2377
- Difference of sex development-intellectual disability syndrome ORPHA:2983
- 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
- Uveal coloboma-cleft lip and palate-intellectual disability ORPHA:1473
- 48,XXYY syndrome ORPHA:10
- C syndrome ORPHA:1308
- Ring chromosome 10 syndrome ORPHA:1438
- 17p11.2 microduplication syndrome ORPHA:1713
- Epilepsy-microcephaly-skeletal dysplasia syndrome ORPHA:1948
- Epilepsy-telangiectasia syndrome ORPHA:1951
- 3C syndrome ORPHA:7
- Agnathia-holoprosencephaly-situs inversus syndrome ORPHA:990
- 2q37 microdeletion syndrome ORPHA:1001
- Ataxia-photosensitivity-short stature syndrome ORPHA:1184
- 19p13.3 microduplication syndrome ORPHA:447980
- 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
- Richieri Costa-da Silva syndrome ORPHA:3101
- Macrocephaly-intellectual disability-left ventricular non compaction syndrome ORPHA:466791
- Joubert syndrome with oculorenal defect ORPHA:2318
- Hypogonadism-mitral valve prolapse-intellectual disability syndrome ORPHA:2233
- Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome ORPHA:459061
- X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome ORPHA:459070
- Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation ORPHA:642763
- Xq25 microduplication syndrome ORPHA:521258
- 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
- 8q24.3 microdeletion syndrome ORPHA:508488
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome ORPHA:508498
- PLAA-associated neurodevelopmental disorder ORPHA:521426
- Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome ORPHA:1321
- Grubben-de Cock-Borghgraef syndrome ORPHA:2101
- Brachydactyly-short stature-retinitis pigmentosa syndrome ORPHA:166035
- RERE-related neurodevelopmental syndrome ORPHA:494344
- Qazi-Markouizos syndrome ORPHA:3010
- Apert syndrome ORPHA:87
- Microcephaly-brain defect-spasticity-hypernatremia syndrome ORPHA:2523
- Coffin-Lowry syndrome ORPHA:192
- Microphthalmia, Lenz type ORPHA:568
- Ramon syndrome ORPHA:3019
- Wolcott-Rallison syndrome ORPHA:1667
- Autosomal dominant primary microcephaly ORPHA:2514
- Noonan syndrome-like disorder with loose anagen hair ORPHA:2701
- CODAS syndrome ORPHA:1458
- 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
- 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
- Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome ORPHA:1014
- Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome ORPHA:1110
- Feingold syndrome ORPHA:1305
- Craniodigital-intellectual disability syndrome ORPHA:1514
- Gómez-López-Hernández syndrome ORPHA:1532
- Acrofacial dysostosis, Rodríguez type ORPHA:1788
- Hidrotic ectodermal dysplasia, Halal type ORPHA:1809
- Intellectual disability-spasticity-ectrodactyly syndrome ORPHA:1891
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome ORPHA:1970
- Hennekam syndrome ORPHA:2136
- Microcephaly-glomerulonephritis-marfanoid habitus syndrome ORPHA:2172
- Dysmorphism-short stature-deafness-difference of sex development syndrome ORPHA:2282
- Lowry-MacLean syndrome ORPHA:2409
- Macrocephaly-spastic paraplegia-dysmorphism syndrome ORPHA:2429
- McDonough syndrome ORPHA:2471
- Autosomal recessive chorioretinopathy-microcephaly syndrome ORPHA:2518
- Lenz-Majewski hyperostotic dwarfism ORPHA:2658
- Stimmler syndrome ORPHA:3199
- Microcephaly-brachydactyly-kyphoscoliosis syndrome ORPHA:3433
- MMEP syndrome ORPHA:3434
- Intellectual disability-short stature-hypertelorism syndrome ORPHA:3074
- Simpson-Golabi-Behmel syndrome ORPHA:373
- Nance-Horan syndrome ORPHA:627
- Craniofrontonasal dysplasia ORPHA:1520
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome ORPHA:1812
- Roifman syndrome ORPHA:353298
- Peters plus syndrome ORPHA:709
- SLC39A8-CDG ORPHA:468699
- Focal epilepsy-intellectual disability-cerebro-cerebellar malformation ORPHA:352587
- Infantile multisystem neurologic-endocrine-pancreatic disease ORPHA:456312
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome ORPHA:508542
- Anterior maxillary protrusion-strabismus-intellectual disability syndrome ORPHA:562559
- Cutaneous mastocytosis-deafness-microtia syndrome ORPHA:2135
- 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
- Down syndrome ORPHA:870
- Fryns syndrome ORPHA:2059
- Galloway-Mowat syndrome ORPHA:2065
- Holoprosencephaly-postaxial polydactyly syndrome ORPHA:2166
- Ulna hypoplasia-intellectual disability syndrome ORPHA:2249
- Johanson-Blizzard syndrome ORPHA:2315
- Sanjad-Sakati syndrome ORPHA:2323
- Osteopenia-intellectual disability-sparse hair syndrome ORPHA:2324
- Kapur-Toriello syndrome ORPHA:2328
- Marfanoid habitus-autosomal recessive intellectual disability syndrome ORPHA:2463
- Lethal omphalocele-cleft palate syndrome ORPHA:2736
- Short stature-webbed neck-heart disease syndrome ORPHA:2865
- Pfeiffer-Palm-Teller syndrome ORPHA:2871
- Holoprosencephaly-radial heart renal anomalies syndrome ORPHA:3186
- Aymé-Gripp syndrome ORPHA:1272
- Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome ORPHA:71267
- Global developmental delay-osteopenia-ectodermal defect syndrome ORPHA:73223
- Ossification anomalies-psychomotor developmental delay syndrome ORPHA:73230
- Aarskog-Scott syndrome ORPHA:915
- Lujan-Fryns syndrome ORPHA:776
- Ruvalcaba syndrome ORPHA:3121
- X-linked intellectual disability-plagiocephaly syndrome ORPHA:2898
- Familial scaphocephaly syndrome, McGillivray type ORPHA:168624
- Microcephaly-polymicrogyria-corpus callosum agenesis syndrome ORPHA:171703
- 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
- Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome ORPHA:457284
- Spastic paraplegia-severe developmental delay-epilepsy syndrome ORPHA:464282
- PMP22-RAI1 contiguous gene duplication syndrome ORPHA:477817
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome ORPHA:477993
- 9q33.3q34.11 microdeletion syndrome ORPHA:495818
- Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome ORPHA:513456
- PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ORPHA:589905
- Cerebrocostomandibular syndrome ORPHA:1393
- Lambert syndrome ORPHA:1296
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome ORPHA:1495
- Acrofacial dysostosis, Catania type ORPHA:1786
- Acrocardiofacial syndrome ORPHA:2008
- Hepatic fibrosis-renal cysts-intellectual disability syndrome ORPHA:2031
- Floating-Harbor syndrome ORPHA:2044
- Prominent glabella-microcephaly-hypogenitalism syndrome ORPHA:2083
- GMS syndrome ORPHA:2090
- Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome ORPHA:2278
- Microcephaly-cardiomyopathy syndrome ORPHA:2515
- N syndrome ORPHA:2608
- Neurofaciodigitorenal syndrome ORPHA:2673
- Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome ORPHA:2743
- 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
- Fountain syndrome ORPHA:3219
- Ulbright-Hodes syndrome ORPHA:3404
- Wiedemann-Rautenstrauch syndrome ORPHA:3455
- Microcephaly-seizures-intellectual disability-heart disease syndrome ORPHA:2519
- Cataract-deafness-hypogonadism syndrome ORPHA:1383
- Frontometaphyseal dysplasia ORPHA:1826
- Focal dermal hypoplasia ORPHA:2092
- Oculofaciocardiodental syndrome ORPHA:2712
- Orofaciodigital syndrome type 1 ORPHA:2750
- X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome ORPHA:3055
- X-linked intellectual disability, Snyder type ORPHA:3063
- VACTERL with hydrocephalus ORPHA:3412
- Van den Bosch syndrome ORPHA:3417
- Wilson-Turner syndrome ORPHA:3459
- Polymicrogyria due to TUBB2B mutation ORPHA:300573
- Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome ORPHA:457279
- Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome ORPHA:457365
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome ORPHA:457485
- Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome ORPHA:476126
- Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome ORPHA:529965
- Lamb-Shaffer syndrome ORPHA:530983
- Developmental and speech delay due to SOX5 deficiency ORPHA:313892
- 12p12.1 microdeletion syndrome ORPHA:313884
- PRUNE1-related neurological syndrome ORPHA:544469
- Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome ORPHA:544488
- TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome ORPHA:562569
- Menke-Hennekam syndrome ORPHA:592574
- SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome ORPHA:597743
- KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome ORPHA:603684
- Silver-Russell syndrome ORPHA:813
- Silver-Russell syndrome due to 7p11.2p13 microduplication ORPHA:231137
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 ORPHA:231147
- Silver-Russell syndrome due to an imprinting defect of 11p15 ORPHA:231140
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 ORPHA:96182
- Silver-Russell syndrome due to a point mutation ORPHA:397590
- Silver-Russell syndrome due to 11p15 microduplication ORPHA:231144
- Sotos syndrome ORPHA:821
- Hypomandibular faciocranial dysostosis ORPHA:1790
- Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome ORPHA:2180
- Isotretinoin-like syndrome ORPHA:2306
- Marshall-Smith syndrome ORPHA:561
- Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ORPHA:494439
- Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome ORPHA:598603
- KLHL7-related Bohring-Opitz-like syndrome ORPHA:603689
- Pontocerebellar hypoplasia type 11 ORPHA:611247
- Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome ORPHA:611207
- Oculogastrointestinal-neurodevelopmental syndrome ORPHA:611201
- KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome ORPHA:610569
- Wolf-Hirschhorn syndrome ORPHA:280
- WAGR syndrome ORPHA:893
- Severe X-linked intellectual disability, Gustavson type ORPHA:3078
- X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability ORPHA:480880
- Corpus callosum agenesis-macrocephaly-hypertelorism syndrome ORPHA:459074
- Short stature-brachydactyly-obesity-global developmental delay syndrome ORPHA:464288
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome ORPHA:466688
- Takenouchi-Kosaki syndrome ORPHA:487796
- Tall stature-intellectual disability-renal anomalies syndrome ORPHA:500095
- Stromme syndrome ORPHA:506307
- Craniosynostosis-microretrognathia-severe intellectual disability syndrome ORPHA:565858
- Oculodentodigital dysplasia ORPHA:2710
- Kallmann syndrome-heart disease syndrome ORPHA:2326
- 4q25 proximal deletion syndrome ORPHA:502437
- Blepharonasofacial malformation syndrome ORPHA:1252
- Cataract-intellectual disability-anal atresia-urinary defects syndrome ORPHA:1381
- Cerebrofaciothoracic dysplasia ORPHA:1394
- Cryptorchidism-arachnodactyly-intellectual disability syndrome ORPHA:1548
- Hartsfield syndrome ORPHA:2117
- Ramos-Arroyo syndrome ORPHA:1051
- Microcephaly-microcornea syndrome, Seemanova type ORPHA:2528
- Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome ORPHA:3044
- Intellectual disability, Buenos-Aires type ORPHA:3079
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome ORPHA:3363
- Urban-Rogers-Meyer syndrome ORPHA:3409
- Zimmermann-Laband syndrome ORPHA:3473
- Arachnodactyly-intellectual disability-dysmorphism syndrome ORPHA:1130
- Proximal Xq28 duplication syndrome ORPHA:1762
- X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome ORPHA:1568
- W syndrome ORPHA:2804
- X-linked intellectual disability-seizures-psoriasis syndrome ORPHA:3052
- 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
- Trigonocephaly-short stature-developmental delay syndrome ORPHA:3369
- 2q23.1 microdeletion syndrome ORPHA:228402
- 21q22.11q22.12 microdeletion syndrome ORPHA:261323
- Megalencephaly-severe kyphoscoliosis-overgrowth syndrome ORPHA:457359
- Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome ORPHA:480898
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders ORPHA:505248
- Gabriele-de Vries syndrome ORPHA:506358
- Pancreatic agenesis-holoprosencephaly syndrome ORPHA:556955
- QRICH1-related intellectual disability-chondrodysplasia syndrome ORPHA:580940
- Spondylometaphyseal dysplasia-corneal dystrophy syndrome ORPHA:589435
- Curry-Jones syndrome ORPHA:1553
- Pallister-Hall syndrome ORPHA:672
- 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
- Cardiofaciocutaneous syndrome ORPHA:1340
- Catel-Manzke syndrome ORPHA:1388
- Crane-Heise syndrome ORPHA:1512
- Epiphyseal dysplasia-hearing loss-dysmorphism syndrome ORPHA:1825
- Skeletal dysplasia-epilepsy-short stature syndrome ORPHA:1858
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome ORPHA:1816
- GAPO syndrome ORPHA:2067
- Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome ORPHA:2234
- Microcephaly-cleft palate-abnormal retinal pigmentation syndrome ORPHA:2521
- Oculocerebrofacial syndrome, Kaufman type ORPHA:2707
- Oculocerebral hypopigmentation syndrome, Cross type ORPHA:2719
- Oliver syndrome ORPHA:2920
- Pseudoprogeria syndrome ORPHA:2985
- Filippi syndrome ORPHA:3255
- Radioulnar synostosis-developmental delay-hypotonia syndrome ORPHA:3270
- Brachydactyly-mesomelia-intellectual disability-heart defects syndrome ORPHA:1277
- Intellectual disability-polydactyly-uncombable hair syndrome ORPHA:3082
- X-linked alpha-thalassemia-intellectual disability syndrome ORPHA:847
- Borjeson-Forssman-Lehmann syndrome ORPHA:127
- Opitz GBBB syndrome ORPHA:2745
- X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome ORPHA:480907
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome ORPHA:457193
- 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
- Pierpont syndrome ORPHA:487825
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome ORPHA:500144
- 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
- CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome ORPHA:600668
- Noonan syndrome ORPHA:648
- Brachymorphism-onychodysplasia-dysphalangism syndrome ORPHA:1292
- Bardet-Biedl syndrome ORPHA:110
- Vici syndrome ORPHA:1493
- Zellweger syndrome ORPHA:912
- Acromelic frontonasal dysplasia ORPHA:1827
- Nijmegen breakage syndrome ORPHA:647
- TARP syndrome ORPHA:2886
- Corpus callosum agenesis-neuronopathy syndrome ORPHA:1496
- Adams-Oliver syndrome ORPHA:974
- 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
- 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
- Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome ORPHA:662829
- 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
- Aniridia-renal agenesis-psychomotor retardation syndrome ORPHA:1064
- Aniridia-ptosis-intellectual disability-familial obesity syndrome ORPHA:1067
- Aniridia-intellectual disability syndrome ORPHA:1068
- Congenital intrauterine infection-like syndrome ORPHA:1229
- Branchioskeletogenital syndrome ORPHA:1299
- Richards-Rundle syndrome ORPHA:1399
- Contractures-ectodermal dysplasia-cleft lip/palate syndrome ORPHA:1484
- 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
- Microcephalic primordial dwarfism, Montreal type ORPHA:2617
- Cardiocranial syndrome, Pfeiffer type ORPHA:2872
- Intellectual disability-balding-patella luxation-acromicria syndrome ORPHA:3041
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome ORPHA:3042
- Telecanthus-hypertelorism-strabismus-pes cavus syndrome ORPHA:3293
- Cleft palate-short stature-vertebral anomalies syndrome ORPHA:2015
- Macrocephaly-short stature-paraplegia syndrome ORPHA:2427
- White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome ORPHA:3207
- 12q14 microdeletion syndrome ORPHA:94063
- Fragile X syndrome ORPHA:908
- X-linked mandibulofacial dysostosis ORPHA:1131
- X-linked skeletal dysplasia-intellectual disability syndrome ORPHA:1436
- Pterygium colli-intellectual disability-digital anomalies syndrome ORPHA:2988
- Intellectual disability, Wolff type ORPHA:3080
- Schinzel-Giedion syndrome ORPHA:798
- Omphalocele syndrome, Shprintzen-Goldberg type ORPHA:3164
- Spinocerebellar degeneration-corneal dystrophy syndrome ORPHA:3177
- Fallot complex-intellectual disability-growth delay syndrome ORPHA:3304
- Weaver-Williams syndrome ORPHA:3448
- Fryns-Smeets-Thiry syndrome ORPHA:2058
- Nicolaides-Baraitser syndrome ORPHA:3051
- Caudal appendage-deafness syndrome ORPHA:1123
- Atkin-Flaitz syndrome ORPHA:1193
- Wieacker-Wolff syndrome ORPHA:3454
- X-linked intellectual disability-short stature-overweight syndrome ORPHA:457240
- 1p35.2 microdeletion syndrome ORPHA:456298
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome ORPHA:457395
- 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
- White-Sutton syndrome ORPHA:468678
- 16p12.1p12.3 triplication syndrome ORPHA:485405
- Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome ORPHA:505237
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome ORPHA:508533
- Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome ORPHA:529665
- Luscan-Lumish syndrome ORPHA:597738
- Clark-Baraitser syndrome ORPHA:600731
- Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome ORPHA:603448
- CHARGE syndrome ORPHA:138
- 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
- Moebius syndrome ORPHA:570
- Ablepharon macrostomia syndrome ORPHA:920
- Hypoglossia-hypodactyly syndrome ORPHA:989
- Autosomal dominant popliteal pterygium syndrome ORPHA:1300
- Joubert syndrome with hepatic defect ORPHA:1454
- Donnai-Barrow syndrome ORPHA:2143
- Mietens syndrome ORPHA:2557
- Ulnar-mammary syndrome ORPHA:3138
- SHORT syndrome ORPHA:3163
- Microgastria-limb reduction defect syndrome ORPHA:2538
- Bonnemann-Meinecke-Reich syndrome ORPHA:1261
- Cortical blindness-intellectual disability-polydactyly syndrome ORPHA:1389
- Temtamy syndrome ORPHA:1777
- Faciocardiorenal syndrome ORPHA:1973
- Hall-Riggs syndrome ORPHA:2107
- Hallermann-Streiff syndrome ORPHA:2108
- Hallermann-Streiff-like syndrome ORPHA:2109
- Hypospadias-intellectual disability, Goldblatt type syndrome ORPHA:2261
- Hypotrichosis-intellectual disability, Lopes type ORPHA:2266
- Johnson neuroectodermal syndrome ORPHA:2316
- Marden-Walker syndrome ORPHA:2461
- Microcephaly-cervical spine fusion anomalies syndrome ORPHA:2522
- Microcephaly-deafness-intellectual disability syndrome ORPHA:2533
- Cooper-Jabs syndrome ORPHA:1488
- Thumb stiffness-brachydactyly-intellectual disability syndrome ORPHA:1078
- Bannayan-Riley-Ruvalcaba syndrome ORPHA:109
- Bowen-Conradi syndrome ORPHA:1270
- Congenital heart defect-round face-developmental delay syndrome ORPHA:1355
- Cataract-intellectual disability-hypogonadism syndrome ORPHA:1387
- Harrod syndrome ORPHA:2115
- Hernández-Aguirre Negrete syndrome ORPHA:2139
- Nodular neuronal heterotopia ORPHA:2149
- Periventricular nodular heterotopia ORPHA:98892
- Sub-cortical nodular heterotopia ORPHA:101029
- Subependymal nodular heterotopia ORPHA:101030
- Hypertelorism-microtia-facial clefting syndrome ORPHA:2213
- Kabuki syndrome ORPHA:2322
- KBG syndrome ORPHA:2332
- Shprintzen-Goldberg syndrome ORPHA:2462
- Upper limb defect-eye and ear abnormalities syndrome ORPHA:2489
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome ORPHA:2502
- Microbrachycephaly-ptosis-cleft lip syndrome ORPHA:2511
- Myhre syndrome ORPHA:2588
- Oculo-palato-cerebral syndrome ORPHA:2714
- Severe oculo-renal-cerebellar syndrome ORPHA:2715
- Oculocerebral hypopigmentation syndrome, Preus type ORPHA:2720
- Preaxial polydactyly-colobomata-intellectual disability syndrome ORPHA:2921
- Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome ORPHA:2928
- De Barsy syndrome ORPHA:2962
- Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome ORPHA:3038
- Say-Barber-Miller syndrome ORPHA:3132
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome ORPHA:3224
- Deafness-onychodystrophy syndrome ORPHA:3231
- Facial dysmorphism-shawl scrotum-joint laxity syndrome ORPHA:1778
- Arachnodactyly-abnormal ossification-intellectual disability syndrome ORPHA:1129
- Paraplegia-intellectual disability-hyperkeratosis syndrome ORPHA:2824
- Keratosis follicularis-dwarfism-cerebral atrophy syndrome ORPHA:2339
- Microphthalmia with linear skin defects syndrome ORPHA:2556
- X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome ORPHA:2958
- SCARF syndrome ORPHA:3134
- FG syndrome type 1 ORPHA:93932
- Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome ORPHA:495875
- Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome ORPHA:500150
- RNF13-related severe early-onset epileptic encephalopathy ORPHA:544503
- Congenital limbs-face contractures-hypotonia-developmental delay syndrome ORPHA:562528
- TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome ORPHA:592570
- CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome ORPHA:599082
- Microphthalmia with limb anomalies ORPHA:1106
- Antley-Bixler syndrome ORPHA:83
- Non-specific syndromic intellectual disability ORPHA:528084
- Infectious disease of the nervous system ORPHA:98010
- Poliomyelitis ORPHA:2912
- Tetanus ORPHA:3299
- Rabies ORPHA:770
- Meningococcal meningitis ORPHA:33475
- Pneumococcal meningitis ORPHA:55655
- Infectious encephalitis ORPHA:98252
- Chikungunya ORPHA:324625
- Herpes simplex virus encephalitis ORPHA:1930
- Tick-borne encephalitis ORPHA:297
- Japanese encephalitis ORPHA:79139
- West-Nile encephalitis ORPHA:83476
- Mycoplasma encephalitis ORPHA:83482
- La Crosse encephalitis ORPHA:83483
- St. Louis encephalitis ORPHA:83484
- Western equine encephalitis ORPHA:83593
- Eastern equine encephalitis ORPHA:83594
- Colorado tick fever ORPHA:83595
- Rubella panencephalitis ORPHA:83616
- Nipah virus disease ORPHA:99825
- Progressive multifocal leukoencephalopathy ORPHA:217260
- Acute necrotizing encephalopathy of childhood ORPHA:263524
- Hendra virus infection ORPHA:324632
- Borna virus encephalitis ORPHA:637051
- Chronic encephalitis ORPHA:98255
- Rasmussen subacute encephalitis ORPHA:1929
- Encephalitis lethargica ORPHA:83600
- Subacute sclerosing leukoencephalitis ORPHA:2806
- Rubella panencephalitis ORPHA:83616
- Tropical spastic paraparesis ORPHA:289326
- Central nervous system tuberculosis ORPHA:641396
- Rare headache ORPHA:98022
- Familial or sporadic hemiplegic migraine ORPHA:569
- Trigeminal autonomic cephalalgia ORPHA:157843
- Hypnic headache ORPHA:276429
- Reversible cerebral vasoconstriction syndrome ORPHA:284388
- Spontaneous intracranial hypotension ORPHA:443180
- Cerebral proliferative angiopathy ORPHA:692271
- Burning mouth syndrome ORPHA:353253
- Rare neurologic disease with psychiatric involvement ORPHA:98033
- 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
- 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 a point mutation ORPHA:411511
- Angelman syndrome due to imprinting defect in 15q11-q13 ORPHA:411515
- 22q11.2 deletion syndrome ORPHA:567
- Wilson disease ORPHA:905
- 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
- Williams syndrome ORPHA:904
- Rare dementia ORPHA:89043
- Bilateral striopallidodentate calcinosis ORPHA:1980
- Neuronal intranuclear inclusion disease ORPHA:2289
- Posterior cortical atrophy ORPHA:54247
- X-linked spinocerebellar ataxia type 4 ORPHA:85292
- Dementia pugilistica ORPHA:97353
- Caribbean parkinsonism ORPHA:97355
- Neurodegenerative disease with dementia ORPHA:98534
- Huntington disease ORPHA:399
- Early-onset autosomal dominant Alzheimer disease ORPHA:1020
- Parkinson-dementia complex of Guam ORPHA:90020
- Primary progressive aphasia ORPHA:95432
- Semantic dementia ORPHA:100069
- Progressive non-fluent aphasia ORPHA:100070
- Logopenic progressive aphasia ORPHA:250831
- Frontotemporal degeneration with dementia ORPHA:98535
- Progressive supranuclear palsy ORPHA:683
- Atypical progressive supranuclear palsy syndrome ORPHA:99750
- Progressive supranuclear palsy-predominant parkinsonism syndrome ORPHA:240085
- Progressive supranuclear palsy-pure akinesia with gait freezing syndrome ORPHA:240094
- Progressive supranuclear palsy-corticobasal syndrome ORPHA:240103
- Progressive supranuclear palsy-progressive non-fluent aphasia syndrome ORPHA:240112
- Classic progressive supranuclear palsy syndrome ORPHA:240071
- Frontotemporal dementia ORPHA:282
- Semantic dementia ORPHA:100069
- Progressive non-fluent aphasia ORPHA:100070
- Behavioral variant of frontotemporal dementia ORPHA:275864
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia ORPHA:52430
- Frontotemporal dementia with motor neuron disease ORPHA:275872
- Corticobasal syndrome ORPHA:454887
- Ataxia with dementia ORPHA:98538
- Early-onset ataxia with dementia ORPHA:98539
- Autosomal recessive cerebellar ataxia ORPHA:1172
- Autosomal recessive ataxia, Beauce type ORPHA:88644
- Autosomal recessive congenital cerebellar ataxia ORPHA:98095
- Autosomal recessive cerebelloparenchymal disorder type 3 ORPHA:1170
- Dysequilibrium syndrome ORPHA:1766
- CAMOS syndrome ORPHA:83472
- Cerebellar ataxia, Cayman type ORPHA:94122
- Joubert syndrome and related disorders ORPHA:140874
- Joubert syndrome with oculorenal defect ORPHA:2318
- Joubert syndrome ORPHA:475
- Joubert syndrome with hepatic defect ORPHA:1454
- Orofaciodigital syndrome type 6 ORPHA:2754
- Joubert syndrome with ocular defect ORPHA:220493
- Joubert syndrome with renal defect ORPHA:220497
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy ORPHA:397715
- Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency ORPHA:453521
- Congenital cerebellar ataxia due to RNU12 mutation ORPHA:512260
- Autosomal recessive metabolic cerebellar ataxia ORPHA:98096
- Autosomal recessive ataxia due to PEX2 deficiency ORPHA:642965
- Ataxia with vitamin E deficiency ORPHA:96
- Abetalipoproteinemia ORPHA:14
- Refsum disease ORPHA:773
- Cerebrotendinous xanthomatosis ORPHA:909
- Infantile Refsum disease ORPHA:772
- Recessive mitochondrial ataxia syndrome ORPHA:94125
- Autosomal recessive ataxia due to PEX10 deficiency ORPHA:247815
- Autosomal recessive cerebellar ataxia with late-onset spasticity ORPHA:352641
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome ORPHA:363429
- Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency ORPHA:324262
- Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency ORPHA:363432
- Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome ORPHA:95433
- Autosomal recessive ataxia due to PEX16 deficiency ORPHA:642954
- Autosomal recessive cerebellar ataxia due to a DNA repair defect ORPHA:98097
- Ataxia-telangiectasia ORPHA:100
- Ataxia-oculomotor apraxia type 1 ORPHA:1168
- Spinocerebellar ataxia with axonal neuropathy type 2 ORPHA:64753
- Spinocerebellar ataxia with axonal neuropathy type 1 ORPHA:94124
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Ataxia-telangiectasia-like disorder ORPHA:251347
- Xeroderma pigmentosum ORPHA:910
- RIDDLE syndrome ORPHA:420741
- Autosomal recessive degenerative and progressive cerebellar ataxia ORPHA:98098
- Friedreich ataxia ORPHA:95
- Early-onset cerebellar ataxia with retained tendon reflexes ORPHA:1177
- Infantile-onset spinocerebellar ataxia ORPHA:1186
- Marinesco-Sjögren syndrome ORPHA:559
- Congenital cataracts-facial dysmorphism-neuropathy syndrome ORPHA:48431
- Posterior column ataxia-retinitis pigmentosa syndrome ORPHA:88628
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome ORPHA:496756
- Autosomal recessive syndromic cerebellar ataxia ORPHA:98099
- Autosomal recessive cerebellar ataxia-movement disorder syndrome ORPHA:95434
- Autosomal recessive cerebellar ataxia-psychomotor delay syndrome ORPHA:284271
- Ataxia-oculomotor apraxia type 4 ORPHA:459033
- Gemignani syndrome ORPHA:2074
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome ORPHA:504476
- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome ORPHA:466794
- Autosomal recessive ataxia due to ubiquinone deficiency ORPHA:139485
- Adult-onset autosomal recessive cerebellar ataxia ORPHA:284289
- Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia ORPHA:284324
- Infantile-onset autosomal recessive nonprogressive cerebellar ataxia ORPHA:284332
- Spectrin-associated autosomal recessive cerebellar ataxia ORPHA:352403
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome ORPHA:404481
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency ORPHA:284282
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency ORPHA:404493
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency ORPHA:404499
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency ORPHA:412057
- Late-onset ataxia with dementia ORPHA:98540
- Autosomal dominant cerebellar ataxia ORPHA:99
- Autosomal dominant cerebellar ataxia type I ORPHA:94145
- Spinocerebellar ataxia type 19/22 ORPHA:98772
- Spinocerebellar ataxia type 21 ORPHA:98773
- Spinocerebellar ataxia type 23 ORPHA:101108
- Spinocerebellar ataxia type 28 ORPHA:101109
- Spinocerebellar ataxia type 20 ORPHA:101110
- Spinocerebellar ataxia type 25 ORPHA:101111
- Spinocerebellar ataxia type 29 ORPHA:208513
- Spinocerebellar ataxia type 32 ORPHA:276183
- Spinocerebellar ataxia type 35 ORPHA:276193
- Spinocerebellar ataxia type 36 ORPHA:276198
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome ORPHA:314404
- Non-progressive cerebellar ataxia with intellectual disability ORPHA:314647
- Spinocerebellar ataxia type 37 ORPHA:363710
- Spinocerebellar ataxia type 40 ORPHA:423275
- Spinocerebellar ataxia type 34 ORPHA:1955
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ORPHA:1171
- Spinocerebellar ataxia type 1 ORPHA:98755
- Spinocerebellar ataxia type 2 ORPHA:98756
- Spinocerebellar ataxia type 3 ORPHA:98757
- Machado-Joseph disease type 1 ORPHA:276238
- Machado-Joseph disease type 2 ORPHA:276241
- Machado-Joseph disease type 3 ORPHA:276244
- Spinocerebellar ataxia type 17 ORPHA:98759
- Spinocerebellar ataxia type 8 ORPHA:98760
- Spinocerebellar ataxia type 12 ORPHA:98762
- Spinocerebellar ataxia type 14 ORPHA:98763
- Spinocerebellar ataxia type 27A ORPHA:98764
- Spinocerebellar ataxia type 4 ORPHA:98765
- Spinocerebellar ataxia type 13 ORPHA:98768
- Spinocerebellar ataxia type 15/16 ORPHA:98769
- Spinocerebellar ataxia type 18 ORPHA:98771
- Spinocerebellar ataxia type 43 ORPHA:497764
- PUM1-associated developmental disability-ataxia-seizure syndrome ORPHA:589515
- Spinocerebellar ataxia type 46 ORPHA:589522
- Spinocerebellar ataxia type 48 ORPHA:631103
- Spinocerebellar ataxia type 27B ORPHA:675216
- Spinocerebellar ataxia type 49 ORPHA:631106
- Autosomal dominant cerebellar ataxia type III ORPHA:94148
- Spinocerebellar ataxia type 45 ORPHA:589527
- Spinocerebellar ataxia type 44 ORPHA:631095
- Spinocerebellar ataxia type 6 ORPHA:98758
- Spinocerebellar ataxia type 5 ORPHA:98766
- Spinocerebellar ataxia type 11 ORPHA:98767
- Spinocerebellar ataxia type 26 ORPHA:101112
- Spinocerebellar ataxia type 30 ORPHA:211017
- Spinocerebellar ataxia type 31 ORPHA:217012
- Spinocerebellar ataxia type 38 ORPHA:423296
- Spinocerebellar ataxia type 41 ORPHA:458798
- Spinocerebellar ataxia type 42 ORPHA:458803
- Autosomal dominant cerebellar ataxia type IV ORPHA:94149
- Autosomal dominant cerebellar ataxia type II ORPHA:208508
- PUM1-related cerebellar ataxia ORPHA:642747
- Juvenile Huntington disease ORPHA:248111
- Huntington disease-like syndrome due to C9ORF72 expansions ORPHA:401901
- PRKAR1B-related neurodegenerative dementia with intermediate filaments ORPHA:412066
- ITM2B amyloidosis ORPHA:439254
- Nasu-Hakola disease ORPHA:2770
- Human prion disease ORPHA:56970
- Inherited human prion disease ORPHA:280400
- Gerstmann-Straussler-Scheinker syndrome ORPHA:356
- Fatal familial insomnia ORPHA:466
- Huntington disease-like 1 ORPHA:157941
- Familial Alzheimer-like prion disease ORPHA:280397
- Inherited Creutzfeldt-Jakob disease ORPHA:282166
- PrP systemic amyloidosis ORPHA:397606
- Sporadic human prion disease ORPHA:576356
- Sporadic Creutzfeldt-Jakob disease ORPHA:204
- Variably protease-sensitive prionopathy ORPHA:454742
- Sporadic fatal insomnia ORPHA:586130
- Acquired human prion disease ORPHA:576360
- Neurodegeneration with brain iron accumulation ORPHA:385
- Woodhouse-Sakati syndrome ORPHA:3464
- Aceruloplasminemia ORPHA:48818
- Neuroferritinopathy ORPHA:157846
- Pantothenate kinase-associated neurodegeneration ORPHA:157850
- Classic pantothenate kinase-associated neurodegeneration ORPHA:216866
- Atypical pantothenate kinase-associated neurodegeneration ORPHA:216873
- Mitochondrial membrane protein-associated neurodegeneration ORPHA:289560
- Kufor-Rakeb syndrome ORPHA:306674
- Beta-propeller protein-associated neurodegeneration ORPHA:329284
- PLA2G6-associated neurodegeneration ORPHA:329303
- Fatty acid hydroxylase-associated neurodegeneration ORPHA:329308
- COASY protein-associated neurodegeneration ORPHA:397725
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome ORPHA:496756
- Hereditary late-onset Parkinson disease ORPHA:411602
- Hereditary sensory neuropathy-deafness-dementia syndrome ORPHA:456318
- Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ORPHA:313808
- Neuroacanthocytosis ORPHA:263440
- Infectious disease with dementia ORPHA:98542
- Metabolic disease with dementia ORPHA:98543
- Metachromatic leukodystrophy ORPHA:512
- Metachromatic leukodystrophy, late infantile form ORPHA:309256
- Metachromatic leukodystrophy, juvenile form ORPHA:309263
- Metachromatic leukodystrophy, adult form ORPHA:309271
- X-linked adrenoleukodystrophy ORPHA:43
- Cerebral lipidosis with dementia ORPHA:98544
- Sandhoff disease ORPHA:796
- Sandhoff disease, infantile form ORPHA:309155
- Sandhoff disease, juvenile form ORPHA:309162
- Sandhoff disease, adult form ORPHA:309169
- Cerebrotendinous xanthomatosis ORPHA:909
- Niemann-Pick disease type C ORPHA:646
- Niemann-Pick disease type C, severe perinatal form ORPHA:216972
- Niemann-Pick disease type C, severe early infantile neurologic onset ORPHA:216975
- Niemann-Pick disease type C, late infantile neurologic onset ORPHA:216978
- Niemann-Pick disease type C, juvenile neurologic onset ORPHA:216981
- Niemann-Pick disease type C, adult neurologic onset ORPHA:216986
- Tay-Sachs disease ORPHA:845
- Tay-Sachs disease, infantile form ORPHA:309178
- Tay-Sachs disease, juvenile form ORPHA:309185
- Tay-Sachs disease, adult form ORPHA:309192
- Gaucher disease type 1 ORPHA:77259
- Gaucher disease type 2 ORPHA:77260
- Gaucher disease type 3 ORPHA:77261
- Adult Krabbe disease ORPHA:206448
- Neuronal ceroid lipofuscinosis ORPHA:216
- Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947
- CLN1 disease ORPHA:228329
- CLN2 disease ORPHA:228349
- CLN3 disease ORPHA:228346
- CLN4 disease ORPHA:228343
- CLN12 disease ORPHA:314632
- CLN11 disease ORPHA:314629
- CLN5 disease ORPHA:228360
- CLN6 disease ORPHA:228363
- CLN7 disease ORPHA:228366
- CLN8 disease ORPHA:228354
- CLN13 disease ORPHA:352709
- CLN10 disease ORPHA:228337
- Rare cerebrovascular dementia ORPHA:98549
- Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy ORPHA:136
- Cerebral Amyloid Angiopathy ORPHA:85458
- ABeta amyloidosis, Dutch type ORPHA:100006
- ACys amyloidosis ORPHA:100008
- ABetaL34V amyloidosis ORPHA:324703
- ABeta amyloidosis, Iowa type ORPHA:324708
- ABeta amyloidosis, Italian type ORPHA:324713
- ABetaA21G amyloidosis ORPHA:324718
- ABeta amyloidosis, Arctic type ORPHA:324723
- Cathepsin A-related arteriopathy-strokes-leukoencephalopathy ORPHA:575553
- Huntington disease-like syndrome ORPHA:158266
- Dentatorubral pallidoluysian atrophy ORPHA:101
- Benign hereditary chorea ORPHA:1429
- Spinocerebellar ataxia type 1 ORPHA:98755
- Spinocerebellar ataxia type 2 ORPHA:98756
- Spinocerebellar ataxia type 3 ORPHA:98757
- Machado-Joseph disease type 1 ORPHA:276238
- Machado-Joseph disease type 2 ORPHA:276241
- Machado-Joseph disease type 3 ORPHA:276244
- Spinocerebellar ataxia type 17 ORPHA:98759
- Neuroferritinopathy ORPHA:157846
- Huntington disease-like 3 ORPHA:157946
- Neuroacanthocytosis ORPHA:263440
- Choreoacanthocytosis ORPHA:2388
- McLeod neuroacanthocytosis syndrome ORPHA:59306
- Huntington disease-like 2 ORPHA:98934
- Pantothenate kinase-associated neurodegeneration ORPHA:157850
- Childhood-onset benign chorea with striatal involvement ORPHA:494541
- HTRA1-related cerebral small vessel disease ORPHA:482072
- Rare pervasive developmental disorder ORPHA:168778
- Rett syndrome ORPHA:778
- Atypical Rett syndrome ORPHA:3095
- Childhood disintegrative disorder ORPHA:168782
- Rare disease with autism ORPHA:180772
- Timothy syndrome ORPHA:65283
- Timothy syndrome type 1 ORPHA:595098
- Timothy syndrome type 2 ORPHA:595105
- Atypical Timothy syndrome ORPHA:595109
- Xq12-q13.3 duplication syndrome ORPHA:314389
- Developmental delay with autism spectrum disorder and gait instability ORPHA:329195
- Fragile X syndrome ORPHA:908
- Smith-Magenis syndrome ORPHA:819
- Tuberous sclerosis complex ORPHA:805
- Adenylosuccinate lyase deficiency ORPHA:46
- Inverted duplicated chromosome 15 syndrome ORPHA:3306
- Macrocephaly-intellectual disability-autism syndrome ORPHA:210548
- 1p21.3 microdeletion syndrome ORPHA:293948
- Autism spectrum disorder due to AUTS2 deficiency ORPHA:352490
- Autism spectrum disorder-epilepsy-arthrogryposis syndrome ORPHA:370943
- Early-onset obesity-hyperphagia-severe developmental delay syndrome ORPHA:99704
- Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract ORPHA:500545
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder ORPHA:589547
- Atypical autism ORPHA:199627
- NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance ORPHA:600663
- FOXG1 syndrome ORPHA:561854
- FOXG1 syndrome due to intragenic alteration ORPHA:598164
- FOXG1 syndrome due to 14q12 microdeletion ORPHA:261144
- CDKL5-deficiency disorder ORPHA:505652
- 15q13.3 microdeletion syndrome ORPHA:199318
- 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
- Klüver-Bucy syndrome ORPHA:157823
- Autoimmune encephalopathy with parasomnia and obstructive sleep apnea ORPHA:420789
- Steroid-responsive encephalopathy associated with autoimmune thyroiditis ORPHA:83601
- Idiopathic catatonia ORPHA:648919
- MYT1L-related developmental delay-intellectual disability-obesity syndrome ORPHA:647799
- Prepubertal anorexia nervosa ORPHA:525738
- Postpartum psychosis ORPHA:443173
- Body integrity dysphoria ORPHA:623789
- PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ORPHA:589905
- Childhood-onset schizophrenia ORPHA:641496
- 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
- Occipital encephalocele ORPHA:268823
- Parietal encephalocele ORPHA:268826
- Basal encephalocele ORPHA:268829
- Frontal encephalocele ORPHA:1931
- Nasal encephalocele ORPHA:141118
- Cranial meningocele ORPHA:268820
- Caudal regression syndrome ORPHA:3027
- 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
- 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 phosphoserine aminotransferase deficiency ORPHA:583602
- Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency ORPHA:583607
- Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency ORPHA:583612
- 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
- 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
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ORPHA:83473
- Corpus callosum agenesis-macrocephaly-hypertelorism syndrome ORPHA:459074
- Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome ORPHA:457284
- Tubulinopathy-associated dysgyria ORPHA:467166
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome ORPHA:466688
- 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
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome ORPHA:397709
- 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
- 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
- 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
- SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome ORPHA:597743
- 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
- Polymicrogyria due to TUBB2B mutation ORPHA:300573
- Chudley-McCullough syndrome ORPHA:314597
- Lethal hydranencephaly-diaphragmatic hernia syndrome ORPHA:480528
- 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
- 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
- Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome ORPHA:603448
- Turnpenny-Fry syndrome ORPHA:688642
- Rare nervous system tumor ORPHA:98062
- Primary central nervous system lymphoma ORPHA:46135
- Craniopharyngioma ORPHA:54595
- Rare tumor of neuroepithelial tissue ORPHA:251558
- Glial tumor ORPHA:182067
- Ependymal tumor ORPHA:301
- RELA fusion-positive ependymoma ORPHA:530792
- Anaplastic ependymoma ORPHA:251646
- Ependymoma ORPHA:251636
- Subependymoma ORPHA:251639
- Myxopapillary ependymoma ORPHA:251643
- Astrocytoma ORPHA:94
- High-grade astrocytoma ORPHA:251561
- Diffuse intrinsic pontine glioma ORPHA:497188
- Glioblastoma ORPHA:360
- Gliomatosis cerebri ORPHA:251582
- Anaplastic astrocytoma ORPHA:251589
- Low-grade astrocytoma ORPHA:251592
- Diffuse astrocytoma ORPHA:251595
- Protoplasmic astrocytoma ORPHA:251598
- Fibrillary astrocytoma ORPHA:251601
- Gemistocytic astrocytoma ORPHA:251604
- Pleomorphic xanthoastrocytoma ORPHA:251607
- Pilocytic astrocytoma ORPHA:251612
- Pilocytic astrocytoma with histological features of anaplasia ORPHA:673585
- Classic pilocytic astrocytoma ORPHA:673580
- Pilomyxoid astrocytoma ORPHA:251615
- Subependymal giant cell astrocytoma ORPHA:251618
- Pituicytoma ORPHA:251623
- Oligodendroglial tumor ORPHA:46484
- Oligoastrocytic tumor ORPHA:251651
- Glial tumor of neuroepithelial tissue with unknown origin ORPHA:251668
- Embryonal tumor of neuroepithelial tissue ORPHA:251852
- Medulloblastoma ORPHA:616
- Anaplastic/large cell medulloblastoma ORPHA:251855
- Medulloblastoma with extensive nodularity ORPHA:251858
- Desmoplastic/nodular medulloblastoma ORPHA:251863
- Classic medulloblastoma ORPHA:251867
- Atypical teratoid rhabdoid tumor ORPHA:99966
- Central nervous system embryonal tumor ORPHA:251870
- Choroid plexus tumor ORPHA:251896
- Papilloma of choroid plexus ORPHA:2807
- Choroid plexus carcinoma ORPHA:251899
- Atypical papilloma of choroid plexus ORPHA:251902
- Pineal tumor of neuroepithelial tissue ORPHA:251905
- Pineoblastoma ORPHA:251909
- Pineocytoma ORPHA:251912
- Papillary tumor of the pineal region ORPHA:251915
- Pineal parenchymal tumor of intermediate differentiation ORPHA:251919
- Neuronal tumor ORPHA:251924
- Central neurocytoma ORPHA:73256
- Extraventricular neurocytoma ORPHA:251927
- Cerebellar liponeurocytoma ORPHA:251931
- Mixed neuronal-glial tumor ORPHA:251934
- Lhermitte-Duclos disease ORPHA:65285
- Gangliocytoma ORPHA:251937
- Desmoplastic infantile astrocytoma/ganglioglioma ORPHA:251940
- Dysembryoplastic neuroepithelial tumor ORPHA:251946
- Ganglioglioma ORPHA:251949
- Anaplastic ganglioglioma ORPHA:251957
- Papillary glioneuronal tumor ORPHA:251962
- Rosette-forming glioneuronal tumor ORPHA:251975
- Ganglioneuroma ORPHA:251992
- Primary germ cell tumor of central nervous system ORPHA:251995
- Embryonal carcinoma of the central nervous system ORPHA:48736
- Germinoma of the central nervous system ORPHA:91352
- Yolk sac tumor of central nervous system ORPHA:252006
- Choriocarcinoma of the central nervous system ORPHA:252015
- Teratoma of the central nervous system ORPHA:252018
- Mixed germ cell tumor of central nervous system ORPHA:252021
- Tumor of meninges ORPHA:252025
- Meningioma ORPHA:2495
- Primary melanocytic tumor of central nervous system ORPHA:252028
- Diffuse leptomeningeal melanocytosis ORPHA:252031
- Meningeal melanocytoma ORPHA:252046
- Primary melanoma of the central nervous system ORPHA:252050
- Familial multiple meningioma ORPHA:263662
- Hemangioblastoma ORPHA:252054
- Tumor of cranial and spinal nerves ORPHA:252057
- Optic pathway glioma ORPHA:2086
- Malignant peripheral nerve sheath tumor ORPHA:3148
- Malignant triton tumor ORPHA:252212
- Malignant peripheral nerve sheath tumor with perineurial differentiation ORPHA:252128
- Perineurioma ORPHA:85102
- Benign peripheral nerve sheath tumor ORPHA:252131
- Primary oculocerebral lymphoma ORPHA:279897
- Rare peripheral neuropathy ORPHA:98496
- Genetic peripheral neuropathy ORPHA:98497
- Ataxia-oculomotor apraxia type 4 ORPHA:459033
- Giant axonal neuropathy ORPHA:643
- Familial recurrent peripheral facial palsy ORPHA:2809
- Infantile neuroaxonal dystrophy ORPHA:35069
- Distal hereditary motor neuropathy ORPHA:53739
- Autosomal dominant distal hereditary motor neuropathy ORPHA:140465
- Autosomal dominant congenital benign spinal muscular atrophy ORPHA:1216
- Autosomal dominant spastic paraplegia type 17 ORPHA:100998
- Distal hereditary motor neuropathy type 1 ORPHA:139518
- Distal hereditary motor neuropathy type 2 ORPHA:139525
- Distal hereditary motor neuropathy type 5 ORPHA:139536
- Distal hereditary motor neuropathy type 7 ORPHA:139589
- Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ORPHA:397744
- Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome ORPHA:476093
- Autosomal recessive distal hereditary motor neuropathy ORPHA:140468
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome ORPHA:496756
- Spinal muscular atrophy with respiratory distress type 1 ORPHA:98920
- Distal spinal muscular atrophy type 3 ORPHA:139547
- Distal hereditary motor neuropathy, Jerash type ORPHA:139552
- Young adult-onset distal hereditary motor neuropathy ORPHA:314485
- COQ7-related distal hereditary motor neuropathy ORPHA:658778
- X-linked distal hereditary motor neuropathy ORPHA:404538
- Spinocerebellar ataxia with axonal neuropathy type 2 ORPHA:64753
- Spinocerebellar ataxia with axonal neuropathy type 1 ORPHA:94124
- Hereditary sensory and autonomic neuropathy ORPHA:140471
- X-linked hereditary sensory and autonomic neuropathy with deafness ORPHA:139583
- Autosomal dominant hereditary sensory and autonomic neuropathy ORPHA:140474
- Hereditary sensory and autonomic neuropathy type 1 ORPHA:36386
- Primary erythromelalgia ORPHA:90026
- Hereditary sensory and autonomic neuropathy type 1B ORPHA:139564
- Hereditary sensory and autonomic neuropathy type 7 ORPHA:391397
- PrP systemic amyloidosis ORPHA:397606
- Hereditary sensory neuropathy-deafness-dementia syndrome ORPHA:456318
- Congenital insensitivity to pain syndrome, Marsili type ORPHA:653728
- Autosomal recessive hereditary sensory and autonomic neuropathy ORPHA:140477
- Familial dysautonomia ORPHA:1764
- Hereditary sensory and autonomic neuropathy type 4 ORPHA:642
- Hereditary sensory and autonomic neuropathy type 2 ORPHA:970
- Hereditary sensory and autonomic neuropathy type 5 ORPHA:64752
- Congenital insensitivity to pain-anosmia-neuropathic arthropathy ORPHA:88642
- Hereditary sensory and autonomic neuropathy with deafness and global delay ORPHA:139573
- Mutilating hereditary sensory neuropathy with spastic paraplegia ORPHA:139578
- Hereditary sensory and autonomic neuropathy type 6 ORPHA:314381
- Cold-induced sweating syndrome-hyperthermia spectrum ORPHA:401993
- Crisponi syndrome ORPHA:1545
- Cold-induced sweating syndrome ORPHA:157820
- KLHL7-related Crisponi/cold-induced sweating-like syndrome ORPHA:603694
- KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome ORPHA:603684
- Hereditary sensory and autonomic neuropathy due to TECPR2 mutation ORPHA:320385
- Hereditary sensory and autonomic neuropathy type 8 ORPHA:478664
- Congenital insensitivity to pain syndrome, Marsili type ORPHA:653728
- Congenital insensitivity to pain with severe intellectual disability ORPHA:453510
- Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation ORPHA:217399
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease ORPHA:163746
- Primary CD59 deficiency ORPHA:169464
- Rare hereditary disease with peripheral neuropathy ORPHA:207015
- Chédiak-Higashi syndrome ORPHA:167
- Triple A syndrome ORPHA:869
- Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome ORPHA:171848
- Rare hereditary metabolic disease with peripheral neuropathy ORPHA:207018
- Beta-mannosidosis ORPHA:118
- Sandhoff disease ORPHA:796
- Sandhoff disease, infantile form ORPHA:309155
- Sandhoff disease, juvenile form ORPHA:309162
- Sandhoff disease, adult form ORPHA:309169
- Fabry disease ORPHA:324
- Metachromatic leukodystrophy ORPHA:512
- Metachromatic leukodystrophy, late infantile form ORPHA:309256
- Metachromatic leukodystrophy, juvenile form ORPHA:309263
- Metachromatic leukodystrophy, adult form ORPHA:309271
- Wilson disease ORPHA:905
- Ataxia with vitamin E deficiency ORPHA:96
- Abetalipoproteinemia ORPHA:14
- Refsum disease ORPHA:773
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency ORPHA:395
- Cerebrotendinous xanthomatosis ORPHA:909
- Tay-Sachs disease ORPHA:845
- Tay-Sachs disease, infantile form ORPHA:309178
- Tay-Sachs disease, juvenile form ORPHA:309185
- Tay-Sachs disease, adult form ORPHA:309192
- Choreoacanthocytosis ORPHA:2388
- De Barsy syndrome ORPHA:2962
- Mitochondrial trifunctional protein deficiency ORPHA:746
- Gyrate atrophy of choroid and retina ORPHA:414
- Tyrosinemia type 1 ORPHA:882
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ORPHA:5
- Tangier disease ORPHA:31150
- Chronic visceral acid sphingomyelinase deficiency ORPHA:77293
- Congenital bile acid synthesis defect type 4 ORPHA:79095
- Peroxisome biogenesis disorder ORPHA:79189
- Zellweger syndrome ORPHA:912
- Neonatal adrenoleukodystrophy ORPHA:44
- Infantile Refsum disease ORPHA:772
- Biotinidase deficiency ORPHA:79241
- Methylmalonic acidemia with homocystinuria, type cblC ORPHA:79282
- Acute hepatic porphyria ORPHA:95157
- Hereditary coproporphyria ORPHA:79273
- Acute intermittent porphyria ORPHA:79276
- Variegate porphyria ORPHA:79473
- Porphyria due to ALA dehydratase deficiency ORPHA:100924
- Adrenomyeloneuropathy ORPHA:139399
- Adult polyglucosan body disease ORPHA:206583
- Mitochondrial disease with peripheral neuropathy ORPHA:225703
- Kearns-Sayre syndrome ORPHA:480
- MELAS ORPHA:550
- MERRF ORPHA:551
- NARP syndrome ORPHA:644
- Pyruvate dehydrogenase deficiency ORPHA:765
- Pyruvate dehydrogenase E3 deficiency ORPHA:2394
- Pyruvate dehydrogenase E1-alpha deficiency ORPHA:79243
- Pyruvate dehydrogenase E2 deficiency ORPHA:79244
- Pyruvate dehydrogenase phosphatase deficiency ORPHA:79246
- Pyruvate dehydrogenase E1-beta deficiency ORPHA:255138
- Pyruvate dehydrogenase E3-binding protein deficiency ORPHA:255182
- Leigh syndrome ORPHA:506
- Oxoglutaric aciduria ORPHA:31
- Alpers-Huttenlocher syndrome ORPHA:726
- Fumaric aciduria ORPHA:24
- Mitochondrial neurogastrointestinal encephalomyopathy ORPHA:298
- Coenzyme Q10 deficiency ORPHA:35656
- Ataxia-oculomotor apraxia type 1 ORPHA:1168
- Autosomal recessive ataxia due to ubiquinone deficiency ORPHA:139485
- Deafness-encephaloneuropathy-obesity-valvulopathy syndrome ORPHA:254898
- Familial steroid-resistant nephrotic syndrome with sensorineural deafness ORPHA:280406
- Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome ORPHA:319678
- Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ORPHA:457185
- COQ7-related distal hereditary motor neuropathy ORPHA:658778
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome ORPHA:70595
- MEHMO syndrome ORPHA:85282
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ORPHA:70472
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ORPHA:436174
- Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy ORPHA:436271
- Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome ORPHA:543470
- Parkinsonism with polyneuropathy ORPHA:611237
- Ocular anomalies-axonal neuropathy-developmental delay syndrome ORPHA:496790
- Encephalopathy due to mitochondrial and peroxisomal fission defect ORPHA:527276
- Rare hereditary systemic disease with peripheral neuropathy ORPHA:207021
- Tangier disease ORPHA:31150
- ATTRV30M amyloidosis ORPHA:85447
- AGel amyloidosis ORPHA:85448
- EMILIN-1-related connective tissue disease ORPHA:485418
- Rare hereditary neurologic disease with peripheral neuropathy ORPHA:207025
- Cerebellar ataxia with peripheral neuropathy ORPHA:207028
- Friedreich ataxia ORPHA:95
- Marinesco-Sjögren syndrome ORPHA:559
- Congenital cataracts-facial dysmorphism-neuropathy syndrome ORPHA:48431
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome ORPHA:504476
- Spinocerebellar ataxia type 46 ORPHA:589522
- CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome ORPHA:610573
- Behr syndrome ORPHA:1239
- Attenuated Chédiak-Higashi syndrome ORPHA:352723
- Congenital trigeminal anesthesia ORPHA:231013
- Hereditary sodium channelopathy-related small fibers neuropathy ORPHA:306577
- Familial episodic pain syndrome ORPHA:391384
- Familial episodic pain syndrome with predominantly upper body involvement ORPHA:391389
- Familial episodic pain syndrome with predominantly lower limb involvement ORPHA:391392
- Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy ORPHA:166
- 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
- Digital extensor muscle aplasia-polyneuropathy ORPHA:2926
- Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder ORPHA:431320
- Spastic paraplegia-optic atrophy-neuropathy syndrome ORPHA:320406
- Autosomal recessive spastic paraplegia type 57 ORPHA:431329
- Autosomal recessive spastic paraplegia type 74 ORPHA:468661
- Autosomal recessive spastic paraplegia type 55 ORPHA:320375
- Axonal hereditary motor and sensory neuropathy ORPHA:476109
- Autosomal recessive axonal hereditary motor and sensory neuropathy ORPHA:91024
- Autosomal recessive Charcot-Marie-Tooth disease type 2X ORPHA:466775
- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome ORPHA:466794
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness ORPHA:101097
- Charcot-Marie-Tooth disease type 2B2 ORPHA:101101
- Charcot-Marie-Tooth disease type 2H ORPHA:101102
- Charcot-Marie-Tooth disease type 2B5 ORPHA:228374
- Charcot-Marie-Tooth disease type 2P ORPHA:300319
- Autosomal recessive axonal neuropathy with neuromyotonia ORPHA:324442
- Charcot-Marie-Tooth disease type 2R ORPHA:397968
- Microcephaly-complex motor and sensory axonal neuropathy syndrome ORPHA:423894
- Charcot-Marie-Tooth disease type 2S ORPHA:443073
- DNAJB2-related Charcot-Marie-Tooth disease type 2 ORPHA:443950
- Severe early-onset axonal neuropathy due to MFN2 deficiency ORPHA:90118
- Hereditary motor and sensory neuropathy with acrodystrophy ORPHA:90119
- Charcot-Marie-Tooth disease type 2B1 ORPHA:98856
- Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome ORPHA:457205
- Hereditary motor and sensory neuropathy type 6 ORPHA:90120
- Charcot-Marie-Tooth disease type 2T ORPHA:495274
- Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy ORPHA:538096
- Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect ORPHA:521411
- Congenital axonal neuropathy with encephalopathy ORPHA:538101
- Autosomal dominant hereditary axonal motor and sensory neuropathy ORPHA:140456
- Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome ORPHA:538574
- Autosomal dominant optic atrophy plus syndrome ORPHA:1215
- Autosomal dominant Charcot-Marie-Tooth disease type 2 ORPHA:64746
- Autosomal dominant Charcot-Marie-Tooth disease type 2B ORPHA:99936
- Autosomal dominant Charcot-Marie-Tooth disease type 2C ORPHA:99937
- Autosomal dominant Charcot-Marie-Tooth disease type 2D ORPHA:99938
- Autosomal dominant Charcot-Marie-Tooth disease type 2E ORPHA:99939
- Autosomal dominant Charcot-Marie-Tooth disease type 2F ORPHA:99940
- Autosomal dominant Charcot-Marie-Tooth disease type 2G ORPHA:99941
- Autosomal dominant Charcot-Marie-Tooth disease type 2I ORPHA:99942
- Autosomal dominant Charcot-Marie-Tooth disease type 2J ORPHA:99943
- Autosomal dominant Charcot-Marie-Tooth disease type 2K ORPHA:99944
- Autosomal dominant Charcot-Marie-Tooth disease type 2L ORPHA:99945
- Autosomal dominant Charcot-Marie-Tooth disease type 2A1 ORPHA:99946
- Autosomal dominant Charcot-Marie-Tooth disease type 2A2 ORPHA:99947
- Autosomal dominant Charcot-Marie-Tooth disease type 2N ORPHA:228174
- Autosomal dominant Charcot-Marie-Tooth disease type 2M ORPHA:228179
- Autosomal dominant Charcot-Marie-Tooth disease type 2O ORPHA:284232
- Charcot-Marie-Tooth disease type 2P ORPHA:300319
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation ORPHA:324611
- Autosomal dominant Charcot-Marie-Tooth disease type 2Q ORPHA:329258
- Autosomal dominant Charcot-Marie-Tooth disease type 2U ORPHA:397735
- Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons ORPHA:401964
- Autosomal dominant Charcot-Marie-Tooth disease type 2Y ORPHA:435387
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation ORPHA:435819
- Autosomal dominant Charcot-Marie-Tooth disease type 2V ORPHA:447964
- Autosomal dominant Charcot-Marie-Tooth disease type 2Z ORPHA:466768
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation ORPHA:487814
- Autosomal dominant Charcot-Marie-Tooth disease type 2W ORPHA:488333
- MME-related autosomal dominant Charcot Marie Tooth disease type 2 ORPHA:497757
- Autosomal dominant Charcot-Marie-Tooth disease type 2DD ORPHA:521414
- Hereditary motor and sensory neuropathy type 5 ORPHA:64751
- Hereditary motor and sensory neuropathy, Okinawa type ORPHA:90117
- Hereditary motor and sensory neuropathy type 6 ORPHA:90120
- Demyelinating hereditary motor and sensory neuropathy ORPHA:476116
- Autosomal dominant hereditary demyelinating motor and sensory neuropathy ORPHA:140453
- Hereditary neuropathy with liability to pressure palsies ORPHA:640
- Roussy-Lévy syndrome ORPHA:3115
- Charcot-Marie-Tooth disease type 1 ORPHA:65753
- Charcot-Marie-Tooth disease type 1E ORPHA:90658
- Charcot-Marie-Tooth disease type 1A ORPHA:101081
- Charcot-Marie-Tooth disease type 1B ORPHA:101082
- Charcot-Marie-Tooth disease type 1C ORPHA:101083
- Charcot-Marie-Tooth disease type 1D ORPHA:101084
- Charcot-Marie-Tooth disease type 1F ORPHA:101085
- Hereditary thermosensitive neuropathy ORPHA:84093
- Neuropathy with hearing impairment ORPHA:139512
- Autosomal dominant slowed nerve conduction velocity ORPHA:140481
- Mitchell Syndrome ORPHA:631248
- PMP2-related Charcot-Marie-Tooth disease type 1 ORPHA:476394
- Hereditary sensorimotor neuropathy with hyperelastic skin ORPHA:280598
- Dejerine-Sottas syndrome ORPHA:64748
- PMP22-RAI1 contiguous gene duplication syndrome ORPHA:477817
- Autosomal recessive hereditary demyelinating motor and sensory neuropathy ORPHA:140459
- Congenital cataracts-facial dysmorphism-neuropathy syndrome ORPHA:48431
- Charcot-Marie-Tooth disease type 4 ORPHA:64749
- Charcot-Marie-Tooth disease type 4A ORPHA:99948
- Charcot-Marie-Tooth disease type 4C ORPHA:99949
- Charcot-Marie-Tooth disease type 4D ORPHA:99950
- Charcot-Marie-Tooth disease type 4E ORPHA:99951
- Charcot-Marie-Tooth disease type 4F ORPHA:99952
- Charcot-Marie-Tooth disease type 4G ORPHA:99953
- Charcot-Marie-Tooth disease type 4H ORPHA:99954
- Charcot-Marie-Tooth disease type 4B1 ORPHA:99955
- Charcot-Marie-Tooth disease type 4B2 ORPHA:99956
- Charcot-Marie-Tooth disease type 4J ORPHA:139515
- Charcot-Marie-Tooth disease type 4B3 ORPHA:363981
- SURF1-related Charcot-Marie-Tooth disease type 4 ORPHA:391351
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome ORPHA:90103
- Dejerine-Sottas syndrome ORPHA:64748
- Polyendocrine-polyneuropathy syndrome ORPHA:453533
- Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome ORPHA:686999
- Infantile multisystem neurologic-endocrine-pancreatic disease ORPHA:456312
- Intermediate Charcot-Marie-Tooth disease ORPHA:476123
- Autosomal dominant intermediate Charcot-Marie-Tooth disease ORPHA:90114
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type E ORPHA:93114
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type A ORPHA:100043
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type B ORPHA:100044
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type C ORPHA:100045
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type D ORPHA:100046
- Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain ORPHA:324585
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type F ORPHA:352670
- Autosomal recessive intermediate Charcot-Marie-Tooth disease ORPHA:268337
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type A ORPHA:217055
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type B ORPHA:254334
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type C ORPHA:369867
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type D ORPHA:435998
- Acquired peripheral neuropathy ORPHA:182086
- Neuralgic amyotrophy ORPHA:2901
- Pudendal nerve entrapment syndrome ORPHA:60039
- Infectious disease with peripheral neuropathy ORPHA:206613
- Acute and subacute inflammatory demyelinating polyneuropathy ORPHA:207038
- Guillain-Barré syndrome ORPHA:2103
- Acute inflammatory demyelinating polyradiculoneuropathy ORPHA:98916
- Acute motor and sensory axonal neuropathy ORPHA:98917
- Acute motor axonal neuropathy ORPHA:98918
- Variant of Guillain-Barré syndrome ORPHA:231413
- Regional variant of Guillain-Barré syndrome ORPHA:231416
- Bickerstaff brainstem encephalitis ORPHA:79138
- Miller Fisher syndrome ORPHA:98919
- Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome ORPHA:231426
- Facial diplegia with paresthesias ORPHA:480701
- Functional variant of Guillain-Barré syndrome ORPHA:231419
- Subacute inflammatory demyelinating polyneuropathy ORPHA:206594
- Chronic acquired demyelinating polyneuropathy ORPHA:208974
- POEMS syndrome ORPHA:2905
- Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG ORPHA:639
- Multifocal motor neuropathy ORPHA:641
- CANOMAD syndrome ORPHA:71279
- Chronic polyradiculoneuropathy ORPHA:208978
- Acquired sensory ganglionopathy ORPHA:208984
- Non-paraneoplastic sensory ganglionopathy ORPHA:208989
- Paraneoplastic sensory ganglionopathy ORPHA:208999
- Systemic inflammatory disease associated with an acquired peripheral neuropathy ORPHA:209007
- Sarcoidosis ORPHA:797
- Eosinophilic granulomatosis with polyangiitis ORPHA:183
- Microscopic polyangiitis ORPHA:727
- Granulomatosis with polyangiitis ORPHA:900
- Polyarteritis nodosa ORPHA:767
- Primary polyarteritis nodosa ORPHA:439737
- Cutaneous polyarteritis nodosa ORPHA:439729
- Single-organ polyarteritis nodosa ORPHA:439755
- Systemic polyarteritis nodosa ORPHA:439762
- Secondary polyarteritis nodosa ORPHA:439746
- Mixed connective tissue disease ORPHA:809
- Cryoglobulinemic vasculitis ORPHA:91138
- Peripheral neuropathy associated with monoclonal gammopathy ORPHA:209010
- POEMS syndrome ORPHA:2905
- Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG ORPHA:639
- CANOMAD syndrome ORPHA:71279
- Simple cryoglobulinemia ORPHA:91139
- Polyneuropathy associated with IgM monoclonal gammopathy ORPHA:209004
- Acquired amyloid peripheral neuropathy ORPHA:209013
- Hematological disease associated with an acquired peripheral neuropathy ORPHA:209016
- POEMS syndrome ORPHA:2905
- Multiple myeloma ORPHA:29073
- Plasmacytoma ORPHA:86855
- Malignant lymphoma with peripheral neuropathy ORPHA:207046
- Solid tumor associated with an acquired peripheral neuropathy ORPHA:209019
- Cranial neuralgia ORPHA:221109
- Combined hyperactive dysfunction syndrome of the cranial nerves ORPHA:221078
- Trigeminal neuralgia ORPHA:221091
- Glossopharyngeal neuralgia ORPHA:221098
- Trigeminal trophic syndrome ORPHA:664901
- Acquired peripheral movement disorder ORPHA:221114
- Non-recovering obstetric brachial plexus lesion ORPHA:439202
- Radiation-induced plexopathy ORPHA:521123
- Idiopathic small fibers neuropathy ORPHA:658549
- Frey syndrome ORPHA:662240
- Neurogenic thoracic outlet syndrome ORPHA:100073
- Congenital laryngeal palsy ORPHA:137932
- Anterior cutaneous nerve entrapment syndrome ORPHA:51890
- Foix-Chavany-Marie syndrome ORPHA:2048
- Locked-in syndrome ORPHA:2406
- Symmetrical thalamic calcifications ORPHA:1314
- Flynn-Aird syndrome ORPHA:2047
- Rare disease with malignant hyperthermia ORPHA:466658
- Multiminicore myopathy ORPHA:598
- Congenital multicore myopathy with external ophthalmoplegia ORPHA:98905
- Moderate multiminicore disease with hand involvement ORPHA:178145
- Antenatal multiminicore disease with arthrogryposis multiplex congenita ORPHA:178148
- Classic multiminicore myopathy ORPHA:324604
- Neuroleptic malignant syndrome ORPHA:94093
- Serotonin syndrome ORPHA:43116
- Malignant hyperthermia of anesthesia ORPHA:423
- Exercise-induced malignant hyperthermia ORPHA:466650
- King-Denborough syndrome ORPHA:99741
- Multiple pterygium-malignant hyperthermia syndrome ORPHA:2215
- Native American myopathy ORPHA:168572
- Primary orthostatic disorder ORPHA:521236
- Primary orthostatic hypotension ORPHA:182058
- Familial dysautonomia ORPHA:1764
- Young-onset Parkinson disease ORPHA:2828
- Peripheral motor neuropathy-dysautonomia syndrome ORPHA:2400
- Pure autonomic failure ORPHA:441
- Dopamine beta-hydroxylase deficiency ORPHA:230
- Multiple system atrophy ORPHA:102
- Multiple system atrophy, parkinsonian type ORPHA:98933
- Multiple system atrophy, cerebellar type ORPHA:227510
- Hereditary late-onset Parkinson disease ORPHA:411602
- Postural orthostatic tachycardia syndrome due to NET deficiency ORPHA:443236
- Post 5-alpha-reductase inhibitors treatment syndrome ORPHA:686468
- Post-selective serotonin reuptake inhibitor sexual dysfunction ORPHA:686475