ataxia with oculomotor apraxia type 3

Term ID

DOID:0060557

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. https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia

References

• OMIM:615217

Ontology

Human Disease   ( DOID:0060557 )