Search Ontology:
Human Disease

spinocerebellar ataxia type 29

Term ID
DOID:0050978
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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models