X-linked sideroblastic anemia and spinocerebellar ataxia
Synonyms: Pagon-Bird-Detter syndrome | X-linked sideroblastic anemia with ataxia | XLSA-A
A rare syndromic inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset non- or slowly progressive spinocerebellar ataxia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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X-linked sideroblastic anemia and spinocerebellar ataxia?
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