SPTBN1 and Global developmental delay: Five affected individuals had coding variants in syndromic ASD genes: JC-50-3 in KMT2C, JC-57-3 in ZNF292, JC-60-3 in SYNE1, MC-04-3 in SPTBN1, and MC-17-3 in SCN1A. Proband MC-04-3 presented with ASD, speech abnormalities, and developmental delay, in line with phenotypes of patients with pathogenic SPTBN1 mutations (MIM #619475)43,44.