X-linked sideroblastic anemia and spinocerebellar ataxia
ORPHA:2802· ICD-10 D64.0
Definition
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- X-linked recessive
- Age of onset
- Childhood, Infancy