X-linked sideroblastic anemia with ataxia

info · Genetic

A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene.

Signs and symptoms

Language impairment
Strabismus
Hypochromic microcytic anemia
Short stature
Seizure
Hypotonia
Ataxia
Abnormal basal ganglia MRI signal intensity
Depression
Nystagmus

Also known as: Anemia sideroblastic and spinocerebellar ataxia; Anemia, sideroblastic, spinocerebellar ataxia; X-linked sideroblastic anaemia and ataxia; X-linked sideroblastic anaemia with ataxia; X-linked sideroblastic anemia and ataxia