Additional Disease Briefs

X-linked scapuloperoneal muscular dystrophy

Also known as: SPM, X-linked SPMD, X-linked scapuloperoneal syndrome, scapuloperoneal myopathy, FHL1-related, scapuloperoneal myopathy, X-linked dominant, scapuloperoneal myopathy, X-linked dominant, X-linked dominant

X-linked severe congenital neutropenia

Also known as: SCNX, X-linked severe congenital neutropenia, Xln, neutropenia, severe congenital, X-linked, neutropenia, severe congenital, X-linked, X-linked recessive, severe congenital neutropenia X-linked, severe congenital neutropenia, X-linked

X-linked severe syndromic thoracic aortic aneurysm and dissection

X-linked sideroblastic anemia 1

Also known as: ANH1, SIDBA1, X chromosome-linked sideroblastic anaemia, X chromosome-linked sideroblastic anemia, X-linked sideroblastic anaemia, X-linked sideroblastic anemia, XLSA, anaemia hereditary sideroblastic, anaemia sex-linked hypochromic sideroblastic, anemia hereditary sideroblastic, anemia sex-linked hypochromic sideroblastic, anemia, hereditary sideroblastic, anemia, hypochromic, anemia, sideroblastic, 1, anemia, sideroblastic, 1, X-linked recessive, anemia, sideroblastic, X-linked, erythroid 5-aminolevulinate synthase deficiency, hereditary iron-loading Anaemia, hereditary iron-loading Anemia, sideroblastic anaemia X-linked, sideroblastic anemia X-linked, sideroblastic anemia, X-linked

X-linked sideroblastic anemia with ataxia

Also known as: ASAT, Pagon Bird Detter syndrome, Pagon-Bird-Detter syndrome, X-linked sideroblastic Anaemia and ataxia, X-linked sideroblastic Anemia and ataxia, X-linked sideroblastic anaemia and ataxia, X-linked sideroblastic anaemia and spinocerebellar ataxia, X-linked sideroblastic anaemia with spinocerebellar ataxia, X-linked sideroblastic anemia and ataxia, X-linked sideroblastic anemia and spinocerebellar ataxia, X-linked sideroblastic anemia with ataxia, X-linked sideroblastic anemia with spinocerebellar ataxia, XLSA-A, Xlsa-A, anaemia sideroblastic and spinocerebellar ataxia, anemia sideroblastic and spinocerebellar ataxia, anemia, Sex-linked hypochromic Siderobla, anemia, sideroblastic, and spinocerebellar ataxia, anemia, sideroblastic, with ataxia, X-linked recessive, sideroblastic anaemia with spinocerebellar ataxia, sideroblastic anemia with spinocerebellar ataxia

X-linked spasticity-intellectual disability-epilepsy syndrome

X-linked spinocerebellar ataxia type 3

Also known as: SCAX3, Scax3, X-linked ataxia-deafness syndrome, ataxia-deafness syndrome X-linked, ataxia-deafness syndrome, X-linked, spinocerebellar ataxia X-linked type 3, spinocerebellar ataxia, X-linked 3, spinocerebellar ataxia, X-linked type 3

X-linked spinocerebellar ataxia type 4

Also known as: SCAX4, Scax4, X-linked ataxia-dementia syndrome, ataxia-dementia syndrome X-linked, ataxia-dementia syndrome, X-linked, spinocerebellar ataxia X-linked type 4, spinocerebellar ataxia, X-linked 4, spinocerebellar ataxia, X-linked type 4

X-linked spondyloepimetaphyseal dysplasia

Also known as: SEMD X-linked, SEMD, X-linked, SEMDX, spondylo-epimetaphyseal dysplasia, spondyloepimetaphyseal dysplasia X-linked, spondyloepimetaphyseal dysplasia, X-linked, spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive

xanthinuria type I

Also known as: XAN1, XDH deficiency, XO deficiency, XOR deficiency, hereditary xanthinuria, type I, isolated xanthine oxidase deficiency, type 1 xanthinuria, xanthine dehydrogenase deficiency, xanthine oxidase deficiency, xanthine oxidoreductase deficiency, xanthinuria type 1, xanthinuria type I, xanthinuria, type 1, xanthinuria, type I