Term Name: ataxia with oculomotor apraxia type 3
Synonyms: ataxia-oculomotor apraxia 3
Definition: An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13.
Ontology: Human Disease [DOID:0060557]   ( DOID:0060557 )

Relationships
is a type of: autosomal recessive cerebellar ataxia