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 )

Relationships
is a type of: autosomal dominant cerebellar ataxia