| Disease ID | Source | Name | Description |
| 616457 | OMIM | Developmental and epileptic encephalopathy 50 (DEE50) | 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. DEE50 is an autosomal recessive, progressive disease with onset in infancy and favorable response to treatment with oral uridine. The disease is caused by variants affecting the gene represented in this entry. |