| Disease ID | Source | Name | Description |
| 617950 | OMIM | Combined oxidative phosphorylation deficiency 36 (COXPD36) | An autosomal recessive, multisystem disease resulting from deficiencies of mitochondrial respiratory enzyme complexes and mitochondrial dysfunction. Clinical manifestations include sensorineural hearing impairment, mild developmental delay, hypoglycemia, and intellectual disability. The disease is caused by variants affecting the gene represented in this entry. |