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X-linked sideroblastic anemia and spinocerebellar ataxia

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Name:
X-linked sideroblastic anemia and spinocerebellar ataxia
Description:
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.
ORPHAcode:
2802
Synonyms:
Pagon-Bird-Detter syndrome
X-linked sideroblastic anemia with ataxia
XLSA-A
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
ABCB7
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14