| Disease ID | Source | Name | Description |
| 618378 | OMIM | Combined oxidative phosphorylation deficiency 38 (COXPD38) | An autosomal recessive disorder due to mitochondrial dysfunction and characterized by perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and mental retardation. The disease may be caused by variants affecting the gene represented in this entry. |