中國(guó)罕見(jiàn)病、基因病、遺傳病大全(附證實(shí)有效的基因檢測(cè)結(jié)構(gòu)-英文字母X開(kāi)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 |
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