| Term Name: | nuclear type mitochondrial complex I deficiency 18 |
|---|---|
| Synonyms: | MC1DN18 |
| Definition: | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31. |
| Ontology: | Human Disease [DOID:0112070] ( DOID:0112070 ) |