====== 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====
  * [[https://pubmed.ncbi.nlm.nih.gov/26989088/|Migot C. et al. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. J Med Genet. 2016;53(8):511-22]]
  * [[https://1drv.ms/b/c/31d83ae8e55e0542/EVPrkjToURFHgiLWCKMuY00BpbbJQo8MkT_zHGqS_YO6wA?e=77tp1G|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.]]

{{tag>syndrome}}