Term Name: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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 )

Relationships
is a type of: autosomal recessive disease mitochondrial metabolism disease