Term Name: | cerebellar ataxia type 43 |
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Synonyms: | SCA43 |
Definition: | An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2. |
Ontology: | Human Disease [DOID:0111745] ( DOID:0111745 ) |