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SYNGAP1-related developmental and epileptic encephalopathy

Disease Summary
Associated Targets (0)

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Mondo Description A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD).
Mondo Term and Equivalent IDs
MONDO:0034099:  SYNGAP1-related developmental and epileptic encephalopathy
Orphanet:544254: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found