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333 Result(s)

X and Y chromosomal anomaly syndrome
X chromosome number anomaly syndrome
X chromosome number anomaly with female phenotype syndrome
X chromosome number anomaly with male phenotype syndrome
X small rings syndrome
X-AIDE
X-ALD
X-CALD
X-LAG
X-linked acqueductal stenosis
X-linked acrogigantism
X-linked adrenal hypoplasia congenita
X-linked adrenoleukodystrophy
X-linked agammaglobulinemia
X-linked AHC
X-linked ALD
X-linked alpha-thalassemia-intellectual disability syndrome
X-linked Alport syndrome
X-linked Alport syndrome-diffuse leiomyomatosis
X-linked Angelman-like syndrome
X-linked anhidrotic ectodermal dysplasia
X-linked ataxia-deafness syndrome
X-linked ataxia-dementia syndrome
X-linked ataxia-hearing loss syndrome
X-linked auditory neuropathy with peripheral sensory neuropathy type 1
X-linked autoinflammatory and immunodeficiency disease associated with ELF4
X-linked branchial arch syndrome
X-linked BSMA
X-linked bulbospinal amyotrophy
X-linked bulbospinal muscular atrophy
X-linked calvarial hyperostosis
X-linked cardioskeletal myopathy and neutropenia
X-linked central congenital hypothyroidism with late-onset macroorchidism
X-linked central congenital hypothyroidism with late-onset testicular enlargement
X-linked centronuclear myopathy
X-linked cerebellar ataxia
X-linked cerebral adrenoleukodystrophy
X-linked cerebral-cerebellar-coloboma syndrome
X-linked Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 1
X-linked Charcot-Marie-Tooth disease type 2
X-linked Charcot-Marie-Tooth disease type 3
X-linked Charcot-Marie-Tooth disease type 4
X-linked Charcot-Marie-Tooth disease type 5
X-linked Charcot-Marie-Tooth disease type 6
X-linked chondrodysplasia punctata type 2
X-linked CID due to SASH3 deficiency
X-linked cleft palate and ankyloglossia
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome
X-linked combined immunodeficiency due to SASH3 deficiency
X-linked common variable immunodeficiency phenotype due to SH3-domain kinase-binding protein 1 deficiency
X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency
X-linked complex spastic paraplegia
X-linked complicated corpus callosum dysgenesis
X-linked complicated spastic paraplegia
X-linked complicated spastic paraplegia type 1
X-linked cone dysfunction syndrome with myopia
X-linked congenital adrenal hypoplasia
X-linked congenital dyserythropoietic anemia with thrombocytopenia
X-linked congenital generalized hypertrichosis
X-linked corneal dermoid
X-linked creatine transporter deficiency
X-linked cutaneous amyloidosis
X-linked CVID phenotype due to SH3KBP1 deficiency
X-linked deafness-intellectual disability syndrome
X-linked dHMN
X-linked dHMN3
X-linked distal arthrogryposis multiplex congenita
X-linked distal hereditary motor neuropathy
X-linked distal hereditary motor neuropathy type 3
X-linked distal spinal muscular atrophy
X-linked distal spinal muscular atrophy type 3
X-linked dominant chondrodysplasia punctata
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
X-linked dominant erythropoietic protoporphyria
X-linked dominant protoporphyria
X-linked dSMA3
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
X-linked dysplasia gigantism syndrome
X-linked dystonia-parkinsonism
X-linked EDS
X-linked Ehlers-Danlos syndrome
X-linked Emery-Dreifuss muscular dystrophy
X-linked endothelial corneal dystrophy
X-linked epilepsy-learning disabilities-behavior disorders syndrome
X-linked erythropoietic protoporphyria
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
X-linked hearing loss-intellectual disability syndrome
X-linked hereditary motor and sensory neuropathy
X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked hereditary sensory and autonomic neuropathy with hearing loss
X-linked HSAN with deafness
X-linked HSAN with hearing loss
X-linked HSAS
X-linked hydrocephalus
X-linked hydrocephalus with stenosis of aqueduct of Sylvius
X-linked hyper-IgM syndrome
X-linked hypohidrotic ectodermal dysplasia
X-linked hypophosphatemia
X-linked hypophosphatemic rickets
X-linked ichthyosis
X-linked ichthyosis syndrome
X-linked IGHD
X-linked immune dysregulation with inflammatory bowel disease due to E74 like ETS transcription factor 4 deficiency
X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunoneurologic disorder
X-linked incomplete achromatopsia
X-linked intellectual disability due to GRIA3 mutations
X-linked intellectual disability due to PQBP1 mutations
X-linked intellectual disability syndrome, Lubs type
X-linked intellectual disability with isolated growth hormone deficiency
X-linked intellectual disability with marfanoid habitus
X-linked intellectual disability, Abidi type
X-linked intellectual disability, Ahmad type
X-linked intellectual disability, Armfield type
X-linked intellectual disability, Atkin type
X-linked intellectual disability, Cabezas type
X-linked intellectual disability, Cantagrel type
X-linked intellectual disability, Cilliers type
X-linked intellectual disability, Golabi-Ito-Hall type
X-linked intellectual disability, Hedera type
X-linked intellectual disability, Kroes type
X-linked intellectual disability, Miles-Carpenter type
X-linked intellectual disability, Najm type
X-linked intellectual disability, Nascimento type
X-linked intellectual disability, Pai type
X-linked intellectual disability, Porteous type
X-linked intellectual disability, Renpenning type
X-linked intellectual disability, Schimke type
X-linked intellectual disability, Seemanova type
X-linked intellectual disability, Shashi type
X-linked intellectual disability, Shrimpton type
X-linked intellectual disability, Siderius type
X-linked intellectual disability, Snyder type
X-linked intellectual disability, Stevenson type
X-linked intellectual disability, Stocco Dos Santos type
X-linked intellectual disability, Stoll type
X-linked intellectual disability, Sutherland-Haan type
X-linked intellectual disability, Van Esch type
X-linked intellectual disability, Wilson type
X-linked intellectual disability-acromegaly-hyperactivity syndrome
X-linked intellectual disability-ataxia-apraxia syndrome
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
X-linked intellectual disability-cerebellar hypoplasia syndrome
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
X-linked intellectual disability-craniofacioskeletal syndrome
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
X-linked intellectual disability-dystonia-dysarthria syndrome
X-linked intellectual disability-epilepsy syndrome
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome
X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
X-linked intellectual disability-gynecomastia-obesity syndrome
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
X-linked intellectual disability-hypotonia syndrome
X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
X-linked intellectual disability-hypotonia-movement disorder syndrome
X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
X-linked intellectual disability-macrocephaly-macroorchidism syndrome
X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
X-linked intellectual disability-microcephaly-testicular failure syndrome
X-linked intellectual disability-nail dystrophy-seizures syndrome
X-linked intellectual disability-plagiocephaly syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked intellectual disability-retinitis pigmentosa syndrome
X-linked intellectual disability-seizures-psoriasis syndrome
X-linked intellectual disability-short stature-overweight syndrome
X-linked isolated growth hormone deficiency
X-linked isolated neurosensory deafness type DFN
X-linked isolated neurosensory hearing loss type DFN
X-linked isolated sensorineural deafness type DFN
X-linked isolated sensorineural hearing loss type DFN
X-linked juvenile retinoschisis
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
X-linked lethal multiple pterygium syndrome
X-linked lissencephaly type 1
X-linked lissencephaly with abnormal genitalia
X-linked lissencephaly with ambiguous genitalia
X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome
X-linked lymphoproliferative disease
X-linked lymphoproliferative disease due to SAP deficiency
X-linked lymphoproliferative disease due to SH2 domain containing 1A protein deficiency
X-linked lymphoproliferative disease due to SH2D1A deficiency
X-linked lymphoproliferative disease due to Signaling lymphocyte activation molecule-associated protein deficiency
X-linked lymphoproliferative disease due to XIAP deficiency
X-linked lymphoproliferative syndrome type 1
X-linked lymphoproliferative syndrome type 2
X-linked mandibulofacial dysostosis
X-linked mandibulofacial dysostosis with limb anomalies
X-linked McLeod syndrome
X-linked mendelian susceptibility to mycobacterial diseases
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
X-linked Moesin-associated immunodeficiency
X-linked MSMD
X-linked MSMD due to CYBB deficiency
X-linked MSMD due to IKBKG deficiency
X-linked MSMD due to NEMO deficiency
X-linked myopathy with excessive autophagy
X-linked myopathy with postural muscle atrophy
X-linked myotubular myopathy
X-linked myotubular myopathy-abnormal genitalia syndrome
X-linked neurodegenerative syndrome, Bertini type
X-linked neurodegenerative syndrome, Hamel type
X-linked non progressive cerebellar ataxia
X-linked non-syndromic intellectual disability
X-linked non-syndromic neurosensory deafness type DFN
X-linked non-syndromic neurosensory hearing loss type DFN
X-linked non-syndromic sensorineural hearing loss type DFN
X-linked Ohdo syndrome
X-linked osteoporosis with fractures
X-linked parkinsonism-spasticity syndrome
X-linked progressive cerebellar ataxia
X-linked pure spastic paraplegia
X-linked recessive hypercalciuric hypophosphatemic rickets
X-linked recessive nephrolithiasis
X-linked recessive ocular albinism
X-linked reticulate pigmentary disorder
X-linked retinal dysplasia
X-linked retinoschisis
X-linked scapuloperoneal muscular dystrophy
X-linked scapuloperoneal syndrome
X-linked severe congenital neutropenia
X-linked severe syndromic TAAD
X-linked severe syndromic thoracic aortic aneurysm and dissection
X-linked sideroblastic anemia
X-linked sideroblastic anemia and spinocerebellar ataxia
X-linked sideroblastic anemia with ataxia
X-linked skeletal dysplasia-intellectual disability syndrome
X-linked spastic paraplegia type 16
X-linked spastic paraplegia type 2
X-linked spastic paraplegia type 34
X-linked spasticity-intellectual disability-epilepsy syndrome
X-linked spinal and bulbar muscular atrophy
X-linked spinal muscular atrophy type 2
X-linked spinal muscular atrophy with respiratory distress
X-linked spinocerebellar ataxia type 3
X-linked spinocerebellar ataxia type 4
X-linked SPMD
X-linked spondyloepimetaphyseal dysplasia
X-linked spondylometaphyseal dysplasia
X-linked thrombocytopenia with normal platelets
Xanthic urolithiasis
Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency
Xanthine dehydrogenase deficiency
Xanthine oxidase deficiency
Xanthine oxidoreductase deficiency
Xanthine stone disease
Xanthinuria type I
Xanthinuria type II
Xanthoma disseminatum
Xanthous oculocutaneous albinism
Xanthurenic aciduria
XDAT
XDH and AOX dual deficiency
XDH deficiency
XDP
XECD
Xeroderma pigmentosum
Xeroderma pigmentosum variant
Xeroderma pigmentosum-Cockayne syndrome complex
XHED
XHIGM
Xia-Gibbs syndrome
XIAP deficiency syndrome
XK aprosencephaly syndrome
XK syndrome
XK-aprosencephaly
XLAG (X-linked lissencephaly with abnormal genitalia) syndrome
XLCNM
XLDPP
XLG
XLH
XLI
XLMTM
XLOA
XLP
XLP1
XLP2
XLPDR
XLPP
XLRS
XLSA
XLSA-A
XLTT
XMEA
XMEN
XMPMA
XO deficiency
XOR deficiency
XP/CS complex
Xp21 contiguous gene deletion syndrome
Xp21 deletion syndrome
Xp21 microdeletion syndrome
Xp22.13p22.2 duplication syndrome
Xp22.3 microdeletion syndrome
XPDS
XPV
Xq12-q13.3 duplication syndrome
Xq21 microdeletion syndrome
Xq22.3 microdeletion syndrome
Xq25 microduplication syndrome
Xq25 microtriplication
Xq27.3-q28 microduplication syndrome
Xq27.3q28 duplication syndrome
Xq28 contiguous gene deletion syndrome
XX female gonadal dysgenesis
XX gonadal dysgenesis-deafness syndrome
XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations
XX gonadal dysgenesis-deafness syndrome-without neurological manifestations
XX gonadal dysgenesis-hearing loss syndrome
XX, male syndrome
XX-GD
XXX syndrome
XY gonadal agenesis syndrome
XY sex reversal-adrenal failure
XY type gonadal dysgenesis-associated anomalies syndrome
Xylitol dehydrogenase deficiency
XYLT1-CDG
XYY syndrome

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ALPHABETICAL LIST

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