Term Name: | spinocerebellar ataxia type 29 |
---|---|
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. |
Ontology: | Human Disease [DOID:0050978] ( DOID:0050978 ) |