label: SYNGAP1-related developmental and epileptic encephalopathy
label_lc: syngap1-related developmental and epileptic encephalopathy
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)."