Human genes for mitochondrial complex III deficiency nuclear type 5
Mitochondrial complex III deficiency nuclear type 5 [DOID:0080114]
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.
Synonyms: mitochondrial complex III deficiency nuclear type 5, DOID:0080114