| Disease ID | Source | Name | Description |
| 617771 | OMIM | Developmental and epileptic encephalopathy 57 (DEE57) | A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE57 is an autosomal dominant condition. The disease is caused by variants affecting the gene represented in this entry. |