Disease - Anemia, sideroblastic, spinocerebellar ataxia
- DefinitionAn X-linked recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia, with hypochromia and microcytosis.
- AcronymASAT
- Alternative names
- Cross references
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Browse 1 entry- Iron-sulfur clusters transporter ABCB7, mitochondrial · Gene: ABCB7 (ABC7) · Homo sapiens (Human) · 752 amino acids · Evidence at protein level · Annotation score: 5/5