| Metadata | |
|---|---|
| ID | DOID:0080114 |
| Name | mitochondrial complex III deficiency nuclear type 5 |
| 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 |
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