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45,X see Turner syndrome
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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 complicated hereditary spastic paraplegia type 1 see L1 syndrome
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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 hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) see L1 syndrome
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X-linked hyperuricemia see Lesch-Nyhan syndrome
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X-linked lissencephaly
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X-linked mental retardation and macroorchidism see fragile X syndrome
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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 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 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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XLIS see X-linked lissencephaly
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XLOA see ocular albinism
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XLSA see X-linked sideroblastic anemia
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XSCID see X-linked severe combined immunodeficiency
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47,XX,+21 see Down syndrome
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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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47,XY,+21 see Down 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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