PedAM
Pediatric Disease Annotations & Medicines
| Disease | epilepsy |
| Symptom | C0036857|severe mental retardation |
| Sentences | 2 |
| PubMedID- 19592390 | Mef2c haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. |
| PubMedID- 20034088 | All patients had severe mental retardation with epilepsy and microcephaly. |
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