Term Name: | sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
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Synonyms: | autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions, SANDO |
Definition: | A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1. |
Ontology: | Human Disease [DOID:0111276] ( DOID:0111276 ) |