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Summary Literature (0)
DOID:0111745 - cerebellar ataxia type 43

Disease Ontology 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.

Synonyms: SCA43,

Xenbase Genes : mme


OMIM:
OMIM:617018 - SPINOCEREBELLAR ATAXIA 43; SCA43

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant cerebellar ataxia (is_a)