Disease ID | Source | Name | Description |
618482 | OMIM | Generalized epilepsy with febrile seizures plus 10 (GEFSP10) | An autosomal dominant neurologic disorder with incomplete penetrance, characterized by variable types of seizures including absence, tonic-clonic, febrile, focal, and eyelid myoclonia. Some patients have normal neurologic development. Others have mild-to-moderate intellectual disability or autism spectrum disorder. The disease is caused by variants affecting the gene represented in this entry. |
615871 | OMIM | Developmental and epileptic encephalopathy 24 (DEE24) | A disease characterized by early-onset seizures, intellectual disability of varying degrees, and behavioral disturbances or autistic features in most individuals. The disease is caused by variants affecting the gene represented in this entry. |