Term Name: spinocerebellar ataxia type 28
Synonyms:
Definition: An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene.
Ontology: Human Disease [DOID:0050977]   ( DOID:0050977 )

Relationships
is a type of: autosomal dominant cerebellar ataxia