| Metadata | |
|---|---|
| ID | DOID:0080115 |
| Name | mitochondrial complex III deficiency nuclear type 6 |
| Definition | A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24. http://omim.org/entry/615453?search=615453&highlight=615453 |
| Xrefs | |
| Parent Relationships |