OBO ID: DOID:0050978
Term Name: spinocerebellar ataxia type 29 Search Ontology:
Synonyms:
Definition: An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene. https://rarediseases.info.nih.gov/diseases/10480/spinocerebellar-ataxia-29
References:
Ontology: Human Disease   (DOID:0050978)
OTHER spinocerebellar ataxia type 29 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ITPR1 Spinocerebellar ataxia 29, congenital nonprogressive 117360
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None