| Disease ID | Source | Name | Description |
| 618959 | OMIM | Developmental and epileptic encephalopathy 88 (DEE88) | A form of epileptic encephalopathy, a heterogeneous group of severe early-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. DEE88 is an autosomal recessive severe form characterized by global developmental delay, epilepsy, and progressive microcephaly. The disease is caused by variants affecting the gene represented in this entry. |