| Term Name: | mitochondrial complex III deficiency nuclear type 5 |
|---|---|
| Synonyms: | |
| Definition: | A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12. |
| Ontology: | Human Disease [DOID:0080114] ( DOID:0080114 ) |