| Disease ID | Source | Name | Description |
| 613076 | OMIM | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay (MPMCHD) | A disease characterized by progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay. The disease is caused by variants affecting the gene represented in this entry. |