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ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (ASAT)

ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (ASAT)
301310
OMIM = Online Mendelian Inheritance of Men
2802
ATP-binding cassette sub-family B member 7, mitochondrial
Xq13.3
D64.0
rare
X-linked recessive
mutation in the ABCB7 gene
Laboratory findings    Hemoglobine dec (blood)
Symptoms    anemia
    ataxia
    dysarthria
    hyperreflexia
    myoclonus
    onset, childhood
    onset, infancy
    sideroblastic anemia
    tremor or twitching