| Disease ID | Source | Name | Description |
| 618298 | OMIM | Developmental and epileptic encephalopathy 70 (DEE70) | 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. DEE70 is an autosomal dominant form with onset in first months of life and variable severity. The disease is caused by variants affecting the gene represented in this entry. |