| Disease ID | Source | Name | Description |
| 618329 | OMIM | Combined oxidative phosphorylation deficiency 37 (COXPD37) | An autosomal recessive disorder due to mitochondrial dysfunction and characterized by hypotonia, failure to thrive, progressive neurodegeneration with neurologic deterioration after the first months of life, global developmental delay, as well as liver dysfunction. Some patients may have hypertrophic cardiomyopathy, loss of vision and hearing, and/or seizures. Death in first months or years of life is observed in most patients. The disease is caused by variants affecting the gene represented in this entry. |