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syngap1 [2025/10/27 01:29] – created Scott Larsonsyngap1 [2025/10/27 01:46] (current) – Scott Larson
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 ====== SYNGAP1-related disorder ====== ====== 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}}