| Disease ID | Source | Name | Description |
| 615476 | OMIM | Developmental and epileptic encephalopathy 18 (DEE18) | A severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging. The disease is caused by variants affecting the gene represented in this entry. |