| Disease ID | Source | Name | Description |
| 617276 | OMIM | Developmental and epileptic encephalopathy 48 (DEE48) | 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. DEE48 is an autosomal recessive form characterized by onset of seizures in the first year of life. Affected individuals manifest global developmental delay, intellectual disability, absent speech, and poor, if any, motor development. The disease may be caused by variants affecting the gene represented in this entry. |