| Disease ID | Source | Name | Description |
| 300607 | OMIM | Developmental and epileptic encephalopathy 8 (DEE8) | A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and mental retardation. Seizures can be provoked by tactile stimulation or extreme emotion. The disease is caused by variants affecting the gene represented in this entry. |