DISEASES

Disease-gene associations mined from literature

Human genes for spinocerebellar ataxia type 28

Spinocerebellar ataxia type 28 [DOID:0050977]

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.

Synonyms:  spinocerebellar ataxia type 28,  DOID:0050977