| Disease ID | Source | Name | Description |
| 614922 | OMIM | Combined oxidative phosphorylation deficiency 11 (COXPD11) | A severe, multisystemic, autosomal recessive, disorder characterized by deficiencies of multiple mitochondrial respiratory enzymes leading to neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures. The disease is caused by variants affecting the gene represented in this entry. |