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Y-Z
45,X
see
Turner syndrome
X-ALD
see
X-linked adrenoleukodystrophy
X chromosome-linked sideroblastic anemia
see
X-linked sideroblastic anemia
X-linked adrenal hypoplasia congenita
X-linked adrenoleukodystrophy
X-linked agammaglobulinemia
X-linked alpha-thalassemia/mental retardation syndrome
see
alpha thalassemia X-linked intellectual disability syndrome
X-linked chondrodysplasia punctata 1
X-linked chondrodysplasia punctata 2
X-linked chronic granulomatous disease
see
chronic granulomatous disease
X-linked complicated hereditary spastic paraplegia type 1
see
L1 syndrome
X-linked congenital stationary night blindness
X-linked copper deficiency
see
Menkes syndrome
X-linked corpus callosum agenesis
see
L1 syndrome
X-linked creatine deficiency
X-linked dilated cardiomyopathy
see
DMD-associated dilated cardiomyopathy
X-linked dystonia-parkinsonism
X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS)
see
L1 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 infantile nystagmus
X-linked infantile spasm syndrome
X-linked intellectual deficit due to PQBP1 mutations
see
Renpenning syndrome
X-linked intellectual deficit, Renpenning type
see
Renpenning syndrome
X-linked intellectual deficit with marfanoid habitus
see
Lujan syndrome
X-linked juvenile retinoschisis
X-linked lissencephaly
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 with marfanoid habitus
see
Lujan syndrome
X-linked myotubular myopathy
X-linked Opitz syndrome (XLOS)
see
Opitz G/BBB syndrome
X-linked primary hyperuricemia
see
Lesch-Nyhan syndrome
X linked Recessive Hereditary Spastic Paraplegia
see
spastic paraplegia type 2
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 uric aciduria enzyme defect
see
Lesch-Nyhan syndrome
X-SCID
see
X-linked severe combined immunodeficiency
Xanthomatosis, Cerebrotendinous
see
cerebrotendinous xanthomatosis
XDP
see
X-linked dystonia-parkinsonism
xeroderma pigmentosum
XLA
see
X-linked agammaglobulinemia
XLCM
see
DMD-associated dilated cardiomyopathy
XLCSNB
see
X-linked congenital stationary night blindness
XLDC
see
DMD-associated dilated cardiomyopathy
XLIS
see
X-linked lissencephaly
XLMR-hypotonic face syndrome
see
alpha thalassemia X-linked intellectual disability syndrome
XLMR with marfanoid features
see
Lujan 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
XMTM
see
X-linked myotubular myopathy
XP
see
xeroderma pigmentosum
XSCID
see
X-linked severe combined immunodeficiency
46,XX testicular disorder of sex development
47,XX,+21
see
Down syndrome
XX male syndrome
see
46,XX testicular disorder of sex development
XX sex reversal
see
46,XX testicular disorder of sex development
47,XXX
see
triple X syndrome
XXX syndrome
see
triple X syndrome
47,XXY
see
Klinefelter syndrome
XXY syndrome
see
Klinefelter syndrome
XXY trisomy
see
Klinefelter syndrome
48,XXYY syndrome
XXYY syndrome
see
48,XXYY syndrome
46,XY CGD
see
Swyer syndrome
46,XY complete gonadal dysgenesis
see
Swyer syndrome
46,XY disorder of sex development due to LH defects
see
Leydig cell hypoplasia
46, XY Disorders of Sex Development
47,XY,+21
see
Down syndrome
XY pure gonadal dysgenesis
see
Swyer syndrome
47,XYY syndrome
XYY Karyotype
see
47,XYY syndrome
XYY syndrome
see
47,XYY syndrome
Published: February 11, 2013