In this study, we explore that potential by analyzing individuals with Schuurs–Hoeijmakers syndrome (SHMS, OMIM #615009), also known as PACS1 syndrome, a rare autosomal dominant NDD caused by a recurrent de novo variant in the PACS1 gene (c.607C>T, p.Arg203Trp) [19]. This evidence concerns the gene PACS1 and Schuurs-Hoeijmakers syndrome.