| Disease ID | Source | Name | Description |
| 615453 | OMIM | Mitochondrial complex III deficiency, nuclear 6 (MC3DN6) | An autosomal recessive disorder caused by mitochondrial dysfunction. It is characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection. Laboratory studies show decreased activity of mitochondrial complex III. Psychomotor development is normal. The disease is caused by variants affecting the gene represented in this entry. |