中國罕見病、基因病、遺傳病大全（附證實有效的基因檢測結(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

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