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45,X see Turner syndrome
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X-ALD see X-linked adrenoleukodystrophy
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X chromosome-linked sideroblastic anemia see X-linked sideroblastic anemia
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X-linked adrenal hypoplasia congenita
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X-linked adrenoleukodystrophy
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X-linked agammaglobulinemia
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X-linked alpha-thalassemia/mental retardation syndrome see alpha thalassemia X-linked intellectual disability syndrome
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X-linked chondrodysplasia punctata 1
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X-linked chondrodysplasia punctata 2
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X-linked chronic granulomatous disease see chronic granulomatous disease
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X-linked complicated hereditary spastic paraplegia type 1 see L1 syndrome
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X-linked congenital stationary night blindness
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X-linked copper deficiency see Menkes syndrome
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X-linked corpus callosum agenesis see L1 syndrome
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X-linked creatine deficiency
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X-linked dilated cardiomyopathy see DMD-associated dilated cardiomyopathy
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X-linked dystonia-parkinsonism
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X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) see L1 syndrome
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X-linked hyper IgM syndrome
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X-linked hypergonadotropic ovarian failure see fragile X-associated primary ovarian insufficiency
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X-linked hyperuricemia see Lesch-Nyhan syndrome
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X-linked infantile nystagmus
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X-linked infantile spasm syndrome
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X-linked intellectual deficit due to PQBP1 mutations see Renpenning syndrome
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X-linked intellectual deficit, Renpenning type see Renpenning syndrome
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X-linked intellectual deficit with marfanoid habitus see Lujan syndrome
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X-linked juvenile retinoschisis
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X-linked lissencephaly
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X-linked lymphoproliferative disease
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X-linked macrothrombocytopenia see dyserythropoietic anemia and thrombocytopenia
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X-linked mental retardation and macroorchidism see fragile X syndrome
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X-linked mental retardation with marfanoid habitus see Lujan syndrome
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X-linked myotubular myopathy
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X-linked Ohdo syndrome see Ohdo syndrome, Maat-Kievit-Brunner type
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X-linked Opitz syndrome (XLOS) see Opitz G/BBB syndrome
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X-linked primary hyperuricemia see Lesch-Nyhan syndrome
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X linked Recessive Hereditary Spastic Paraplegia see spastic paraplegia type 2
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X-linked severe combined immunodeficiency
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X-linked sideroblastic anemia
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X-linked sideroblastic anemia and ataxia
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X-linked spinal and bulbar muscular atrophy see spinal and bulbar muscular atrophy
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X-linked spondyloepiphyseal dysplasia tarda
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X-linked thrombocytopenia
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X-linked uric aciduria enzyme defect see Lesch-Nyhan syndrome
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X-SCID see X-linked severe combined immunodeficiency
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Xanthomatosis, Cerebrotendinous see cerebrotendinous xanthomatosis
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XDP see X-linked dystonia-parkinsonism
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xeroderma pigmentosum
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XLA see X-linked agammaglobulinemia
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XLAG see X-linked lissencephaly
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XLCM see DMD-associated dilated cardiomyopathy
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XLCSNB see X-linked congenital stationary night blindness
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XLDC see DMD-associated dilated cardiomyopathy
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XLISG see X-linked lissencephaly
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XLMR-hypotonic face syndrome see alpha thalassemia X-linked intellectual disability syndrome
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XLMR with marfanoid features see Lujan syndrome
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XLMTM see X-linked myotubular myopathy
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XLOA see ocular albinism
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XLP see X-linked lymphoproliferative disease
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XLSA see X-linked sideroblastic anemia
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XLSA/A see X-linked sideroblastic anemia and ataxia
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XLT see X-linked thrombocytopenia
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XMTM see X-linked myotubular myopathy
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XP see xeroderma pigmentosum
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XSCID see X-linked severe combined immunodeficiency
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46,XX testicular disorder of sex development
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47,XX,+21 see Down syndrome
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XX male syndrome see 46,XX testicular disorder of sex development
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XX sex reversal see 46,XX testicular disorder of sex development
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47,XXX see triple X syndrome
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XXX syndrome see triple X syndrome
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47,XXY see Klinefelter syndrome
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XXY syndrome see Klinefelter syndrome
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XXY trisomy see Klinefelter syndrome
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48,XXYY syndrome
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XXYY syndrome see 48,XXYY syndrome
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46,XY CGD see Swyer syndrome
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46,XY complete gonadal dysgenesis see Swyer syndrome
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46,XY disorder of sex development due to LH defects see Leydig cell hypoplasia
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46, XY Disorders of Sex Development
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47,XY,+21 see Down syndrome
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XY pure gonadal dysgenesis see Swyer syndrome
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47,XYY syndrome
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XYY Karyotype see 47,XYY syndrome
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XYY syndrome see 47,XYY syndrome
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