Term Name:	mitochondrial DNA depletion syndrome 16B
Synonyms:	mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)
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.
Ontology:	Human Disease [DOID:0070447]   ( DOID:0070447 )