| Disease ID | Source | Name | Description |
| 617281 | OMIM | Developmental and epileptic encephalopathy 49 (DEE49) | 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. DEE49 is a severe autosomal recessive form characterized by onset of seizures in the neonatal period, global developmental delay, intellectual disability, and additionally cerebral calcifications and coarse facial features. The disease is caused by variants affecting the gene represented in this entry. |