| Disease ID | Source | Name | Description |
| 618835 | OMIM | Combined oxidative phosphorylation deficiency 40 (COXPD40) | An autosomal recessive mitochondrial disorder characterized by prenatal or infantile onset, fetal hydrops, severe hypertrophic cardiomyopathy, poor growth, sensorineural hearing loss, hepatic dysfunction, lactic acidosis, and decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with death occurring in infancy. The disease is caused by variants affecting the gene represented in this entry. |