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 )

Relationships
is a type of: mitochondrial complex III deficiency