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Human Disease

mitochondrial DNA depletion syndrome 16B

Term ID
DOID:0070447
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. https://pubmed.ncbi.nlm.nih.gov/31778857/
References
Ontology
Human Disease   ( DOID:0070447 )
Relationships
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Genes Involved
Zebrafish Models