Disease ID | Source | Name | Description |
616276 | OMIM | Coenzyme Q10 deficiency, primary, 7 (COQ10D7) | An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10, and severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rarely, symptoms may have later onset. The disease is caused by variants affecting the gene represented in this entry. |