For example, heterozygous mutations in SETD2 have been linked to Luscan-Lumish syndrome (LLS; OMIM 616831), characterized by macrocephaly, postnatal overgrowth, ASD, developmental delay (D'Gama et al., 2015; Lumish et al., 2015; Wu et al., 2023). The gene discussed is SETD2; the disease is Luscan-Lumish syndrome.