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

• OMIM:619425

Ontology

Human Disease   ( DOID:0070447 )