Visualize Submit Comment
Metadata
ID DOID:0060557
Name ataxia with oculomotor apraxia type 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.
https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia
Xrefs

OMIM:615217

Synonyms

ataxia-oculomotor apraxia 3 [EXACT]

Parent Relationships

is_a autosomal recessive cerebellar ataxia

Add an item to the term tracker