DISEASES

Disease-gene associations mined from literature

Human genes for ataxia with oculomotor apraxia type 1

Ataxia with oculomotor apraxia type 1 [DOID:0050754]

An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene.

Synonyms:  ataxia with oculomotor apraxia type 1,  DOID:0050754