| Term Name: | nuclear type mitochondrial complex I deficiency 5 |
|---|---|
| Synonyms: | MC1DN5 |
| Definition: | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3. |
| Ontology: | Human Disease [DOID:0112068] ( DOID:0112068 ) |