Since the initial publication on SYNGAP1-related conditions from initial descriptions of unrelated individuals with non-syndromic intellectual disability (114), advances have been made in the characterization of associated genetic changes with loss of function by heterozygous truncating mutations in the majority of cases (89%) and deletions to the 6p21.3 locus in a minority (11%) (106). This evidence concerns the gene SYNGAP1 and Intellectual disability.