| Disease ID | Source | Name | Description |
| 614654 | OMIM | Coenzyme Q10 deficiency, primary, 5 (COQ10D5) | A form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. The disease is caused by variants affecting the gene represented in this entry. |