1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0070447 | mitochondrial DNA depletion syndrome 16B | 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. |