| Disease ID | Source | Name | Description |
| 614501 | OMIM | Psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED) | A disease characterized by severe psychomotor retardation, intractable seizures, dysmorphic features, and a lumpy skull surface. Patients are hypotonic and have poor feeding in the neonatal period. The disease is caused by variants affecting the gene represented in this entry. |