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X-ALD [↗]
Xanthic urolithiasis [↗]
Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency [↗]
Xanthine dehydrogenase deficiency [↗]
Xanthine stone disease [↗]
Xanthinuria [↗]
Xanthinuria type I [↗]
Xanthinuria type II [↗]
Xanthoma disseminatum [↗]
Xanthomatosis with sisterolemia [↗]
Xanthous oculocutaneous albinism [↗]
Xanthurenic aciduria [↗]
XDH and AOX dual deficiency [↗]
XDH deficiency [↗]
Xeroderma pigmentosum [↗]
Xeroderma pigmentosum/Cockayne syndrome complex [↗]
Xeroderma pigmentosum complementation group A [↗]
Xeroderma pigmentosum complementation group B [↗]
Xeroderma pigmentosum complementation group C [↗]
Xeroderma pigmentosum complementation group D [↗]
Xeroderma pigmentosum complementation group E [↗]
Xeroderma pigmentosum complementation group F [↗]
Xeroderma pigmentosum complementation group G [↗]
Xeroderma pigmentosum variant [↗]
Xeroderma pigmentosum with neurologic manifestation [↗]
Xeroderma - talipes - enamel defects [↗]
XGPT deficiency [↗]
XK aprosencephaly [↗]
XLAG syndrome [↗]
XLCNM [↗]
XLG [↗]
X-linked adrenoleukodystrophy [↗]
X-linked agammaglobulinemia [↗]
X-linked ALD [↗]
X-linked Alport syndrome [↗]
X-linked anhidrotic ectodermal dysplasia [↗]
X-linked ataxia-deafness syndrome [↗]
X-linked ataxia-dementia syndrome [↗]
X-linked auditory neuropathy with peripheral sensory neuropathy type 1 [↗]
X-linked BBB syndrome [↗]
X-linked branchial arch syndrome [↗]
X-linked bulbospinal amyotrophy [↗]
X-linked cardioskeletal myopathy and neutropenia [↗]
X-linked centronuclear myopathy [↗]
X-linked cerebellar ataxia [↗]
X-linked cerebellar ataxia type 1 [↗]
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 complicated corpus callosum dysgenesis [↗]
X-linked cone dysfunction syndrome with myopia [↗]
X-linked congenital adrenal hypoplasia [↗]
X-linked congenital generalized hypertrichosis [↗]
X-linked copper deficiency [↗]
X-linked corneal dermoid [↗]
X-linked creatine transporter deficiency [↗]
X-linked cutis laxa [↗]
X-linked deafness, DFN3 [↗]
X-linked deafness - intellectual deficit syndrome [↗]
X-linked deafness mixed with perilymphatic gusher [↗]
X-linked deafness mixed with perilymph gusher [↗]
X-linked diffuse leiomyomatosis - Alport syndrome [↗]
X-linked distal arthrogryposis multiplex congenita [↗]
X-linked distal hereditary motor neuropathy [↗]
X-linked distal-HMN [↗]
X-linked distal spinal muscular atrophy [↗]
X-linked dominant chondrodysplasia, Chassaing-Lacombe type [↗]
X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia [↗]
X-linked dominant chondrodysplasia punctata [↗]
X-linked dominant intellectual deficit - epilepsy [↗]
X-linked dyserythropoietic anemia and thrombocytopenia [↗]
X-linked dysplasia gigantism syndrome [↗]
X-linked dystonia-parkinsonism [↗]
X-linked Ehlers-Danlos syndrome [↗]
X-linked Emery-Dreifuss muscular dystrophy [↗]
X-linked epilepsy - learning disabilities - behavior disorders [↗]
X-linked hereditary sensory and autonomic neuropathy with deafness [↗]
X-linked HSAN with deafness [↗]
X-linked hyper-IgM syndrome [↗]
X-linked hypohidrotic ectodermal dysplasia [↗]
X-linked hypophosphatemia [↗]
X-linked IGHD [↗]
X-linked immune dysregulation - polyendocrinopathy - enteropathy [↗]
X-linked immunoneurologic disorder [↗]
X-linked incomplete achromatopsia [↗]
X-linked infantile spinal muscular atrophy [↗]
X-linked intellectual deficit, Ahmad type [↗]
X-linked intellectual deficit - ataxia - apraxia [↗]
X-linked intellectual deficit, Atkin type [↗]
X-linked intellectual deficit, Cabezas type [↗]
X-linked intellectual deficit - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy [↗]
X-linked intellectual deficit due to PQBP1 mutations [↗]
X-linked intellectual deficit - dystonia - dysarthria [↗]
X-linked intellectual deficit - epilepsy [↗]
X-linked intellectual deficit - epileptic seizures - hypogenitalism - microcephaly - obesity [↗]
X-linked intellectual deficit, Golabi-Ito-Hall type [↗]
X-linked intellectual deficit - gynecomastia - obesity [↗]
X-linked intellectual deficit - hypotonia [↗]
X-linked intellectual deficit - hypotonia - recurrent Infections [↗]
X-linked intellectual deficit - macroglossia - brachydactyly [↗]
X-linked intellectual deficit - microcephaly - brainstem and cerebellum hypoplasia [↗]
X-linked intellectual deficit - microcephaly - cortical malformation - thin habitus [↗]
X-linked intellectual deficit - microcephaly - testicular failure [↗]
X-linked intellectual deficit - nail dystrophy - seizures [↗]
X-linked intellectual deficit, Najm type [↗]
X-linked intellectual deficit, Renpenning type [↗]
X-linked intellectual deficit - seizures - short stature - midface hypoplasia [↗]
X-linked intellectual deficit, Stoll type [↗]
X-linked intellectual deficit, Sutherland-Haan type [↗]
X-linked intellectual deficit with isolated growth hormone deficiency [↗]
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 lissencephaly - agenesis of the corpus callosum - genital anomalies [↗]
X-linked lissencephaly type 1 [↗]
X-linked lissencephaly with abnormal genitalia [↗]
X-linked lissencephaly with ambiguous genitalia [↗]
X-linked lymphoproliferative disease [↗]
X-linked mandibulofacial dysostosis [↗]
X-linked mandibulofacial dysostosis with limb anomalies [↗]
X-linked McLeod syndrome [↗]
X-linked mixed conductive and neurosensory deafness [↗]
X-linked mixed conductive and neurosensory hearing loss [↗]
X-linked mixed conductive and sensorineural deafness [↗]
X-linked mixed conductive and sensorineural hearing loss [↗]
X-linked myopathy with excessive autophagy [↗]
X-linked myopathy with postural muscle atrophy [↗]
X-linked neurodegenerative syndrome, Bertini type [↗]
X-linked neurodegenerative syndrome, Hamel type [↗]
X-linked nonsyndromic intellectual deficit [↗]
X-linked nonsyndromic neurosensory deafness type DFN [↗]
X-linked nonsyndromic neurosensory hearing loss type DFN [↗]
X-linked nonsyndromic sensorineural deafness type DFN [↗]
X-linked nonsyndromic sensorineural hearing loss type DFN [↗]
X-linked Opitz G/BBB syndrome [↗]
X-linked Opitz syndrome [↗]
X-linked recessive hypercalciuric hypophosphatemic rickets [↗]
X-linked recessive intellectual deficit - epilepsy [↗]
X-linked recessive intellectual deficit - macrocephaly - ciliary dysfunction [↗]
X-linked recessive nephrolithiasis [↗]
X-linked recessive ocular albinism [↗]
X-linked retinal dysplasia [↗]
X-linked retinoschisis [↗]
X-linked severe congenital neutropenia [↗]
X-linked sideroblastic anemia [↗]
X-linked sideroblastic anemia - ataxia [↗]
X-linked spastic paraplegia type 1 [↗]
X-linked spastic paraplegia type 16 [↗]
X-linked spastic paraplegia type 2 [↗]
X-linked spastic paraplegia type 34 [↗]
X-linked spinal muscular atrophy type 2 [↗]
X-linked spinocerebellar ataxia type 3 [↗]
X-linked spinocerebellar ataxia type 4 [↗]
X-linked spondyloepimetaphyseal dysplasia [↗]
X-linked spondylometaphyseal dysplasia [↗]
X-linked thrombocytopenia with normal platelets [↗]
XLMTM [↗]
XLP [↗]
XLTT [↗]
XMEA [↗]
XP [↗]
Xp21 microdeletion syndrome [↗]
XP/CS [↗]
XPV [↗]
Xq22.3 microdeletion syndrome [↗]
Xq27.3q28 duplication syndrome [↗]
Xq27.3-q28 microduplication syndrome [↗]
X small rings [↗]
XX gonodal dysgenesis - deafness [↗]
XX, male syndrome [↗]
XXX [↗]
XY gonadal agenesis [↗]
Xylitol dehydrogenase deficiency [↗]
Xylosylprotein 4-beta-galactosyltransferase deficiency [↗]
XY sex reversal - adrenal failure [↗]

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