Conditions related to genes on the X chromosome

Genetics Home Reference includes these conditions related to genes on the X chromosome:

• Aarskog-Scott syndrome
• Allan-Herndon-Dudley syndrome
• alpha thalassemia X-linked intellectual disability syndrome
• Alport syndrome
• amelogenesis imperfecta
• androgenetic alopecia
• androgen insensitivity syndrome
• Arts syndrome
• 17β-hydroxysteroid dehydrogenase type 10 deficiency
• breast cancer
• Charcot-Marie-Tooth disease
• choroideremia
• Christianson syndrome
• chronic granulomatous disease
• Coffin-Lowry syndrome
• color vision deficiency
• congenital hemidysplasia with ichthyosiform erythroderma and limb defects
• Cornelia de Lange syndrome
• cutis laxa
• Danon disease
• deafness-dystonia-optic neuronopathy syndrome
• Dent disease
• DMD-associated dilated cardiomyopathy
• Duchenne and Becker muscular dystrophy
• dyserythropoietic anemia and thrombocytopenia
• dyskeratosis congenita
• Emery-Dreifuss muscular dystrophy
• Fabry disease
• familial exudative vitreoretinopathy
• FG syndrome
• focal dermal hypoplasia
• fragile X-associated primary ovarian insufficiency
• fragile X-associated tremor/ataxia syndrome
• fragile X syndrome
• frontometaphyseal dysplasia
• glucose-6-phosphate dehydrogenase deficiency
• glycogen storage disease type IX
• hemophilia
• hereditary hypophosphatemic rickets
• hypohidrotic ectodermal dysplasia
• immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• incontinentia pigmenti
• inherited thyroxine-binding globulin deficiency
• intestinal pseudo-obstruction
• isolated growth hormone deficiency
• Joubert syndrome
• Kallmann syndrome
• L1 syndrome
• Langer mesomelic dysplasia
• Leigh syndrome
• Lenz microphthalmia syndrome
• Léri-Weill dyschondrosteosis
• Lesch-Nyhan syndrome
• Lowe syndrome
• Lujan syndrome
• McLeod neuroacanthocytosis syndrome
• MECP2 duplication syndrome
• MECP2-related severe neonatal encephalopathy
• Melnick-Needles syndrome
• Menkes syndrome
• 3-methylglutaconic aciduria
• microphthalmia
• microphthalmia with linear skin defects syndrome
• mucopolysaccharidosis type II
• nephrogenic diabetes insipidus
• nonsyndromic deafness
• Norrie disease
• ocular albinism
• oculofaciocardiodental syndrome
• Ohdo syndrome, Maat-Kievit-Brunner type
• Opitz G/BBB syndrome
• oral-facial-digital syndrome
• ornithine transcarbamylase deficiency
• osteopetrosis
• otopalatodigital syndrome type 1
• otopalatodigital syndrome type 2
• paroxysmal nocturnal hemoglobinuria
• Pelizaeus-Merzbacher disease
• periventricular heterotopia
• phosphoglycerate kinase deficiency
• phosphoribosylpyrophosphate synthetase superactivity
• porphyria
• PPM-X syndrome
• pyruvate dehydrogenase deficiency
• Renpenning syndrome
• retinitis pigmentosa
• Rett syndrome
• severe congenital neutropenia
• Simpson-Golabi-Behmel syndrome
• spastic paraplegia type 2
• spinal and bulbar muscular atrophy
• spinal muscular atrophy
• Swyer syndrome
• Turner syndrome
• type 1 diabetes
• Wiskott-Aldrich syndrome
• X-linked adrenal hypoplasia congenita
• X-linked adrenoleukodystrophy
• X-linked agammaglobulinemia
• X-linked chondrodysplasia punctata 1
• X-linked chondrodysplasia punctata 2
• X-linked congenital stationary night blindness
• X-linked creatine deficiency
• X-linked dystonia-parkinsonism
• X-linked hyper IgM syndrome
• X-linked infantile nystagmus
• X-linked infantile spasm syndrome
• X-linked juvenile retinoschisis
• X-linked lissencephaly
• X-linked lymphoproliferative disease
• X-linked myotubular myopathy
• X-linked severe combined immunodeficiency
• X-linked sideroblastic anemia
• X-linked sideroblastic anemia and ataxia
• X-linked spondyloepiphyseal dysplasia tarda
• X-linked thrombocytopenia