DISEASES

Disease-gene associations mined from literature

Human genes for sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [DOID:0111276]

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.

Synonyms:  sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,  and ophthalmoparesis sensory ataxic neuropathy, dysarthria,  DOID:0111276,  sensory ataxic neuropathy dysarthria and ophthalmoparesis,  and ophthalmoparesis sensory ataxic neuropathy dysarthria ...