mitochondrial complex III deficiency nuclear type 5

Term ID

DOID:0080114

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. http://omim.org/entry/615160?search=615160&highlight=615160

References

• OMIM:615160

Ontology

Human Disease   ( DOID:0080114 )