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Metadata
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

OMIM:617018

ORDO:497764

Subsets

DO_rare_slim

Synonyms

SCA43 [EXACT]

Parent Relationships

is_a autosomal dominant cerebellar ataxia

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