mitochondrial DNA depletion syndrome 16B (DOID:0070447)
Alliance: disease page
Synonyms: mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)
Alt IDs: OMIM:619425
Definition: A mitochondrial DNA depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.