![Genetics Home Reference, Your Guide to Understanding Genetic Conditions](https://ghr.nlm.nih.gov/images/GHR_LOGO_Tagline.png)
Health Conditions
Explore the signs and symptoms, frequency, genetic cause, and inheritance pattern of various conditions, diseases, and syndromes.
- 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-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 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 complicated hereditary spastic paraplegia type 1, see L1 syndrome
- X-linked congenital nystagmus, see X-linked infantile nystagmus
- X-linked congenital stationary night blindness
- X-linked copper deficiency, see Menkes syndrome
- X-linked corpus callosum agenesis, see L1 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 hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), 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
- 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 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 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 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 X-linked infantile spasm syndrome
- 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
- XJR, see X-linked juvenile retinoschisis
- XLA, see X-linked agammaglobulinemia
- XLAG, see X-linked lissencephaly with abnormal genitalia
- 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
- 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
- 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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