| Term Name: | nuclear type mitochondrial complex I deficiency 16 |
|---|---|
| Synonyms: | MC1DN16 |
| Definition: | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1. |
| Ontology: | Human Disease [DOID:0112096] ( DOID:0112096 ) |