Metadata | |
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ID | DOID:0111745 |
Name | cerebellar ataxia type 43 |
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. https://www.ncbi.nlm.nih.gov/pubmed/27583304 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
SCA43 [EXACT] |
Parent Relationships |