| Disease ID | Source | Name | Description |
| 615395 | OMIM | Combined oxidative phosphorylation deficiency 16 (COXPD16) | An autosomal recessive, mitochondrial disorder characterized by hypertrophic cardiomyopathy, liver steatosis, and decreased levels of mitochondrial complexes I and IV in heart and skeletal muscle. The disease is caused by variants affecting the gene represented in this entry. |