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Human Disease
mitochondrial DNA depletion syndrome 16B
- Term ID
- DOID:0070447
- Synonyms
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- 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. https://pubmed.ncbi.nlm.nih.gov/31778857/
- References
- Ontology
- Human Disease ( DOID:0070447 )
- is a type of
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