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Genetic Conditions: X
URL of this page: https://medlineplus.gov/genetics/condition-x/

Genetic Conditions: X

Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.

Other genetic conditions A-Z
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  • 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 Developmental and epileptic encephalopathy 1
  • X-linked infantile spasm syndrome 1, see Developmental and 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 Developmental and epileptic encephalopathy 1
  • X-linked primary hyperuricemia, see Lesch-Nyhan syndrome
  • X-linked pseudoglycogenosis II, see Danon disease
  • 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 vacuolar cardiomyopathy and myopathy, see Danon disease
  • X-linked West syndrome, see Developmental and 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
  • 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 difference of sex development
  • XXX syndrome, see Trisomy X
  • 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
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