| Disease ID | Source | Name | Description |
| 614651 | OMIM | Coenzyme Q10 deficiency, primary, 2 (COQ10D2) | An autosomal recessive multisystem disorder characterized by early-onset deafness, optic atrophy, mild mental retardation, peripheral neuropathy, obesity, livedo reticularis, and cardiac valvulopathy. The disease is caused by variants affecting the gene represented in this entry. |