| Metadata | |
|---|---|
| ID | DOID:0070447 |
| Name | mitochondrial DNA depletion syndrome 16B |
| 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/ |
| Xrefs | |
| SKOS |
exactMatch MIM:619425 |
| Synonyms |
mitochondrial DNA depletion syndrome 16B (neuroophthalmic type) [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |