SYNGAP1-related disorder -CEW

Main Features

Intellectual disability
Epilepsy
Behavioral abnormalities

Strabismus 20-30%- mostly exotropia

Autism
Hypotonia
Motor delays

Heterozygous loss-of-function mutations in SYNGAP1 gene

Migot C. et al. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. J Med Genet. 2016;53(8):511-22
Parker MJ, et al. De novo, heterozygous, loss-offunction mutations in SYNGAP1 cause a syndromic form of intellectual disability. Am J Med Genet 2015;Part A 167A:2231-2237.

syndrome