| Disease ID | Source | Name | Description |
| 611126 | OMIM | Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) | An autosomal recessive metabolic disorder associated with mitochondrial complex I deficiency, resulting in multisystemic and variable manifestations. Clinical features include infantile onset of acute metabolic acidosis, Reye-like episodes (brain edema and vomiting that may rapidly progress to seizures, coma and death), exercise intolerance, hypertrophic cardiomyopathy, liver failure, muscle weakness, and neurologic dysfunction. The disease is caused by variants affecting the gene represented in this entry. |