中國罕見病、基因病、遺傳病大全（附證實(shí)有效的基因檢測結(jié)構(gòu)-英文字母X開頭）
| X-linked sideroblastic anemia |
| X chromosome-linked sideroblastic anemia |
| Spastic paraplegia type 2 |
| X linked Recessive Hereditary Spastic Paraplegia |
| X-ALD |
| X-LAG |
| X-linked acrogigantism |
| X-linked acrogigantism syndrome |
| X-linked adrenal hypoplasia congenita |
| X-linked adrenoleukodystrophy |
| X-linked agammaglobulinemia |
| X-linked AHC |
| X-linked alpha-thalassemia/mental retardation syndrome |
| X-linked autoimmunity-allergic dysregulation syndrome |
| X-linked cardiac valvular dysplasia |
| X-linked centronuclear myopathy |
| X-linked chondrodysplasia punctata 1 |
| X-linked chondrodysplasia punctata 2 |
| Chronic granulomatous disease |
| X-linked congenital nystagmus |
| X-linked congenital stationary night blindness |
| X-linked copper deficiency |
| X-linked creatine deficiency |
| X-linked creatine deficiency syndrome |
| X-linked CSNB |
| X-linked dilated cardiomyopathy |
| X-linked dominant chondrodysplasia punctata |
| X-linked dystonia-parkinsonism |
| X-linked dystonia-parkinsonism syndrome |
| X-linked hydrocephalus 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 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 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 |
| XJR, see X-linked juvenile retinoschisis |
| 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 |
| 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 |
(責(zé)任編輯：佳學(xué)基因)
