Even well-established ASD-related genes and variants are not fully causal/monogenic conditions in terms of ASD, including the trinucleotide repeat in FRM1 causing Fragile X syndrome, chromosomal deletions across the maternal UBE3A gene causing Angelman syndrome, and loss-of-function variants in SHANK3 causing Phelan-McDermid syndrome. Here, SHANK3 is linked to Phelan-McDermid syndrome.