| Disease ID | Source | Name | Description |
| 616430 | OMIM | Combined oxidative phosphorylation deficiency 25 (COXPD25) | A mitochondrial disorder resulting in developmental delay, growth failure, and sensorineural hearing loss. The disease is caused by variants affecting the gene represented in this entry. |
| 611390 | OMIM | Spastic ataxia 3, autosomal recessive (SPAX3) | A neurologic disorder characterized by cerebellar ataxia, ataxic gait, spasticity, and hyperreflexia. Other variable features include dysarthria, dysmetria, mild cognitive impairment, urinary urgency and dystonic positioning. The disease is caused by variants affecting the gene represented in this entry. |