| Disease ID | Source | Name | Description |
| 617339 | OMIM | Developmental and epileptic encephalopathy 51 (DEE51) | 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. DEE51 is an autosomal recessive form characterized by onset of intractable seizures and hypotonia in the first days or weeks of life, and severely delayed psychomotor development. The disease is caused by variants affecting the gene represented in this entry. |