Luscan-Lumish syndrome (LLS, OMIM: 616831), as a rare condition characterized by overgrowth, macrocephaly, obesity, type I Chiari malformation, and linguistic retardation, has been recognized over the recent years as an autosomal dominant genetic condition caused by SETD2 gene variant (van Rij et al., 2018; Suda et al., 2021). This evidence concerns the gene SETD2 and Luscan-Lumish syndrome.