Term Name: ataxia with oculomotor apraxia type 1
Synonyms:
Definition: 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.
Ontology: Human Disease [DOID:0050754]   ( DOID:0050754 )

Relationships
is a type of: autosomal recessive cerebellar ataxia