Furthermore, STXBP1 is one of the most frequently mutated genes in sporadic intellectual disabilities and developmental disorders (Hamdan et al., 2009; Hamdan et al., 2011; Rauch et al., 2012; Deciphering Developmental Disorders Study, 2015; Deciphering Developmental Disorders Study, 2017; Suri et al., 2017). This evidence concerns the gene STXBP1 and Intellectual disability.