OBO ID: DOID:0060557
Term Name: ataxia with oculomotor apraxia type 3 Search Ontology:
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:
Ontology: Human Disease   ( DOID:0060557 )
OTHER ataxia with oculomotor apraxia type 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PIK3R5 Ataxia-oculomotor apraxia 3 615217
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None