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 ) |