Term Name:	familial isolated deficiency of vitamin E
Synonyms:	ataxia with isolated vitamin E deficiency, familial isolated vitamin E deficiency
Definition:	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.
Ontology:	Human Disease [DOID:0090028]   ( DOID:0090028 )