Loss of function variants in SH3KBP1 are most commonly detected in patients with IMD61, but findings on two families with intellectual disability and large duplications encompassing SH3KBP1, EIF1AX, and RPS6KA3 genes indicate a possible role for SH3KBP1 in addition to that of RPS6KA3 [44,45]. This evidence concerns the gene SH3KBP1 and Intellectual disability.