| Term Name: | nuclear type mitochondrial complex I deficiency 31 |
|---|---|
| Synonyms: | MC1DN31 |
| Definition: | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMMDC1 gene on chromosome 3q13.33. |
| Ontology: | Human Disease [DOID:0112071] ( DOID:0112071 ) |