Search
sideroblastic anemia with spinocerebellar ataxia
Genetics:
- recessive disorder
- associated with defects in ABCB7
Clinical manifestations:
- infantile to early childhood onset of nonprogressive cerebellar ataxia
Laboratory:
- complete blood count (CBC): mild anemia with hypochromia & microcytosis
Interactions
disease interactions
Related
ATP-binding cassette sub-family B member 7, mitochondrial; ATP-binding cassette transporter 7; ABC transporter 7 protein (ABCB7 ABC7)
General
sideroblastic anemia
X-linked disease
Database Correlations
OMIM 301310
Entrez Gene 8252