| Disease ID | Source | Name | Description |
| 618437 | OMIM | Developmental and epileptic encephalopathy 75 (DEE75) | 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. DEE75 is an autosomal recessive form characterized by onset of severe refractory seizures in the first months of life. The disease may be caused by variants affecting the gene represented in this entry. |