Human genes for familial isolated deficiency of vitamin E
Familial isolated deficiency of vitamin E [DOID:0090028]
A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12.
Synonyms: familial isolated deficiency of vitamin E, DOID:0090028, hereditary isolated deficiency of vitamin E, familial isolated deficiency of vitamin Es, ataxia with isolated vitamin E deficiency ...