Table of Contents
Main Features
Eye Findings
Other Findings
Etiology
Resources
SYNGAP1-related disorder
Main Features
Intellectual disability
Epilepsy
Behavioral abnormalities
Eye Findings
Strabismus 20-30%- mostly exotropia
Other Findings
Autism
Hypotonia
Motor delays
Etiology
Heterozygous loss-of-function mutations in SYNGAP1 gene
Resources
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