Term Name: | mitochondrial complex III deficiency nuclear type 5 |
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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 ) |