X - Health Conditions - Genetics Home Reference - NIH

X - Health Conditions - Genetics Home Reference - NIH

• X chromosome-linked sideroblastic anemia, see X-linked sideroblastic anemia
• X linked Recessive Hereditary Spastic Paraplegia, see Spastic paraplegia type 2
• X-ALD, see X-linked adrenoleukodystrophy
• X-LAG, see X-linked acrogigantism
• X-linked acrogigantism
• X-linked acrogigantism syndrome, see X-linked acrogigantism
• X-linked adrenal hypoplasia congenita
• X-linked adrenoleukodystrophy
• X-linked agammaglobulinemia
• X-linked AHC, see X-linked adrenal hypoplasia congenita
• X-linked alpha-thalassemia/mental retardation syndrome, see Alpha thalassemia X-linked intellectual disability syndrome
• X-linked arthrogryposis multiplex congenita, see X-linked infantile spinal muscular atrophy
• X-linked arthrogryposis type I, see X-linked infantile spinal muscular atrophy
• X-linked autoimmunity-allergic dysregulation syndrome, see Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• X-linked cardiac valvular dysplasia
• X-linked centronuclear myopathy, see X-linked myotubular myopathy
• X-linked chondrodysplasia punctata 1
• X-linked chondrodysplasia punctata 2
• X-linked chronic granulomatous disease, see Chronic granulomatous disease
• X-linked congenital nystagmus, see X-linked infantile nystagmus
• X-linked congenital stationary night blindness
• X-linked copper deficiency, see Menkes syndrome
• X-linked creatine deficiency
• X-linked creatine deficiency syndrome, see X-linked creatine deficiency
• X-linked CSNB, see X-linked congenital stationary night blindness
• X-linked dilated cardiomyopathy
• X-linked dominant chondrodysplasia punctata, see X-linked chondrodysplasia punctata 2
• X-linked dystonia-parkinsonism
• X-linked dystonia-parkinsonism syndrome, see X-linked dystonia-parkinsonism
• X-linked hydrocephalus syndrome, see L1 syndrome
• X-linked hyper IgM syndrome
• X-linked hypergonadotropic ovarian failure, see Fragile X-associated primary ovarian insufficiency
• X-linked hyperuricemia, see Lesch-Nyhan syndrome
• X-linked idiopathic infantile nystagmus, see X-linked infantile nystagmus
• X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
• X-linked infantile nystagmus
• X-linked infantile spasm syndrome, see Early infantile epileptic encephalopathy 1
• X-linked infantile spasm syndrome 1, see Early infantile epileptic encephalopathy 1
• X-linked infantile spinal muscular atrophy
• X-linked intellectual deficit due to PQBP1 mutations, see Renpenning syndrome
• X-linked intellectual deficit with marfanoid habitus, see Lujan syndrome
• X-linked intellectual deficit, Najm type, see CASK-related intellectual disability
• X-linked intellectual deficit, Renpenning type, see Renpenning syndrome
• X-linked intellectual deficit-dystonia-dysarthria, see Partington syndrome
• X-linked intellectual disability, Siderius type
• X-linked juvenile retinoschisis
• X-linked lethal infantile SMA, see X-linked infantile spinal muscular atrophy
• X-linked lissencephaly 2, see X-linked lissencephaly with abnormal genitalia
• X-linked lissencephaly with abnormal genitalia
• X-linked lissencephaly with ambiguous genitalia, see X-linked lissencephaly with abnormal genitalia
• X-linked lymphoproliferative disease
• X-linked lymphoproliferative syndrome, see X-linked lymphoproliferative disease
• X-linked macrothrombocytopenia, see Dyserythropoietic anemia and thrombocytopenia
• X-linked mental retardation and macroorchidism, see Fragile X syndrome
• X-linked mental retardation Hamel type, see X-linked intellectual disability, Siderius type
• X-linked mental retardation Siderius type, see X-linked intellectual disability, Siderius type
• X-linked mental retardation with dystonic movements, ataxia, and seizures, see Partington syndrome
• X-linked mental retardation with marfanoid habitus, see Lujan syndrome
• X-linked mental retardation, syndromic 13, see PPM-X syndrome
• X-linked monoamine oxidase deficiency, see Monoamine oxidase A deficiency
• X-linked myotubular myopathy
• X-linked myxomatous valvular dystrophy, see X-linked cardiac valvular dysplasia
• X-linked Ohdo syndrome, see Ohdo syndrome, Maat-Kievit-Brunner type
• X-linked Ohtahara syndrome, see Early infantile epileptic encephalopathy 1
• X-linked primary hyperuricemia, see Lesch-Nyhan syndrome
• X-linked pyridoxine-responsive sideroblastic anemia, see X-linked sideroblastic anemia
• X-linked recessive chondrodysplasia punctata 1, see X-linked chondrodysplasia punctata 1
• X-linked retinoschisis, see X-linked juvenile retinoschisis
• X-linked SCID, see X-linked severe combined immunodeficiency
• X-linked SED, see X-linked spondyloepiphyseal dysplasia tarda
• X-linked SEDT, see X-linked spondyloepiphyseal dysplasia tarda
• X-linked severe combined immunodeficiency
• X-linked sideroblastic anemia
• X-linked sideroblastic anemia and ataxia
• X-linked spinal and bulbar muscular atrophy, see Spinal and bulbar muscular atrophy
• X-linked spondyloepiphyseal dysplasia tarda
• X-linked thrombocytopenia
• X-linked torsion dystonia-parkinsonism syndrome, see X-linked dystonia-parkinsonism
• X-linked uric aciduria enzyme defect, see Lesch-Nyhan syndrome
• X-linked West syndrome, see Early infantile epileptic encephalopathy 1
• X-SCID, see X-linked severe combined immunodeficiency
• xanthine dehydrogenase deficiency, see Hereditary xanthinuria
• xanthine oxidase deficiency, see Hereditary xanthinuria
• xanthinuria, see Hereditary xanthinuria
• XDH deficiency, see Hereditary xanthinuria
• XDP, see X-linked dystonia-parkinsonism
• Xeroderma pigmentosum
• XGS, see Xia-Gibbs syndrome
• Xia-Gibbs syndrome
• XJR, see X-linked juvenile retinoschisis
• XL-SMA, see X-linked infantile spinal muscular atrophy
• XLA, see X-linked agammaglobulinemia
• XLAAD, see Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• XLAG, see X-linked lissencephaly with abnormal genitalia
• XLAG, see X-linked acrogigantism
• XLCM, see X-linked dilated cardiomyopathy
• XLCSNB, see X-linked congenital stationary night blindness
• XLDC, see X-linked dilated cardiomyopathy
• XLISG, see X-linked lissencephaly with abnormal genitalia
• XLMR with marfanoid features, see Lujan syndrome
• XLMR-hypotonic face syndrome, see Alpha thalassemia X-linked intellectual disability syndrome
• XLMTM, see X-linked myotubular myopathy
• XLOA, see Ocular albinism
• XLP, see X-linked lymphoproliferative disease
• XLSA, see X-linked sideroblastic anemia
• XLSA/A, see X-linked sideroblastic anemia and ataxia
• XLSMA, see X-linked infantile spinal muscular atrophy
• XLT, see X-linked thrombocytopenia
• XMEN, see X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
• XMTM, see X-linked myotubular myopathy
• XMVD, see X-linked cardiac valvular dysplasia
• XP, see Xeroderma pigmentosum
• XSCID, see X-linked severe combined immunodeficiency
• XX male syndrome, see 46,XX testicular disorder of sex development
• XX sex reversal, see 46,XX testicular disorder of sex development
• XXX syndrome, see Triple X syndrome
• XXXXY aneuploidy, see 49,XXXXY syndrome
• XXXXY syndrome, see 49,XXXXY syndrome
• XXXY males, see 48,XXXY syndrome
• XXXY syndrome, see 48,XXXY syndrome
• XXY syndrome, see Klinefelter syndrome
• XXY trisomy, see Klinefelter syndrome
• XXYY syndrome, see 48,XXYY syndrome
• XY pure gonadal dysgenesis, see Swyer syndrome
• xylitol dehydrogenase deficiency, see Essential pentosuria
• XYY karyotype, see 47,XYY syndrome
• XYY syndrome, see 47,XYY syndrome