DISEASES

Disease-gene associations mined from literature

Human genes for X-linked sideroblastic anemia with ataxia

X-linked sideroblastic anemia with ataxia [DOID:0050554]

An autosomal recessive disease that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy.

Synonyms:  X-linked sideroblastic anemia with ataxia,  DOID:0050554,  Xlinked sideroblastic anemia with ataxia,  Anemia sideroblastic and spinocerebellar ataxia,  X-linked sideroblastic anemia and ataxia ...

Linkouts:  OMIM