X-linked sideroblastic anemia with ataxia

A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.

Also known as: ASAT, Pagon-Bird-Detter syndrome, X-linked sideroblastic anaemia with spinocerebellar ataxia, X-linked sideroblastic anemia with ataxia, X-linked sideroblastic anemia with spinocerebellar ataxia, XLSA-A, anaemia sideroblastic and spinocerebellar ataxia, anemia, sideroblastic, with ataxia, X-linked recessive

81 clinical trials for this condition and its sub-types.