| Disease ID | Source | Name | Description |
| 612016 | OMIM | Coenzyme Q10 deficiency, primary, 4 (COQ10D4) | An autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Patient manifest gait ataxia and cerebellar atrophy with slow progression. Additional features include brisk tendon reflexes and Hoffmann sign, variable psychomotor retardation and variable seizures. The disease is caused by variants affecting the gene represented in this entry. |