| Disease ID | Source | Name | Description |
| 618008 | OMIM | Developmental and epileptic encephalopathy 65 (DEE65) | 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. DEE65 is an autosomal dominant form characterized by onset of intractable seizures usually in the first 6 months of life and severe to profound psychomotor developmental delay. The disease is caused by variants affecting the gene represented in this entry. |