| Disease ID | Source | Name | Description |
| 617664 | OMIM | Combined oxidative phosphorylation deficiency 32 (COXPD32) | An autosomal recessive disorder due to deficiency of mitochondrial respiratory chain complexes, I, III and IV, and characterized by delayed psychomotor development and neurodevelopmental regression. Additional variable symptoms include poor or absent speech, inability to walk, and abnormal movements. The disease is caused by variants affecting the gene represented in this entry. |