| Disease ID | Source | Name | Description |
| 613861 | OMIM | Retinitis pigmentosa 59 (RP59) | A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry. |
| 617836 | OMIM | Developmental delay and seizures with or without movement abnormalities (DEDSM) | An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor. The disease may be caused by variants affecting the gene represented in this entry. |