" /> Spinocerebellar ataxia, X-linked 6, with or without sideroblastic anemia - CISMeF





Preferred Label : Spinocerebellar ataxia, X-linked 6, with or without sideroblastic anemia;

Symbol : SCAX6;

CISMeF acronym : ASAT;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ASAT; Anemia, sideroblastic, and spinocerebellar ataxia;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutations in the ATP-binding cassette, subfamily B, member 7 gene (ABCB7, 300135.0001).;

Laboratory abnormalities : Increased free erythrocyte protoporphyrin; Lack of excessive parenchymal iron storage;

Prefixed ID : #301310;

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27/07/2025


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