| Disease ID | Source | Name | Description |
| 618792 | OMIM | Developmental and epileptic encephalopathy 84 (DEE84) | A form of epileptic encephalopathy, a heterogeneous group of severe early-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. DEE84 is an autosomal recessive form characterized by onset of refractory seizures in the first months of life. The disease is caused by variants affecting the gene represented in this entry. |