CACNA1E and Global developmental delay: Two individuals had pdSNV in each of the following genes: CACNA1E, CHD8, DIP2A, FOXP1, RORB, SETD5, STXBP1, SUV420H1 (now referred to as KMT5B), and SYNGAP1. Combining the ASC102 genes with developmental delay/ID genes from additional curated sources (ASC102 + DGR) led to the identification of 157 pdSNV in 144 probands (18%), and 12 individuals had more than one pdSNV.