| Disease ID | Source | Name | Description |
| 618838 | OMIM | Combined oxidative phosphorylation deficiency 41 (COXPD41) | An autosomal recessive mitochondrial disorder characterized by prenatal onset, fetal hydrops, intrauterine growth retardation, hypertrophic cardiomyopathy, respiratory insufficiency, lactic acidosis, and decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with death occurring in the perinatal period. The disease may be caused by variants affecting the gene represented in this entry. |