RNU1-2 and craniosynostosis: If we consider all the 36 genes in the two regions that are associated with macrocephaly (14 on chromosome 22q13.2 and 22 on 22q13.31), it is of interest that biallelic pathogenic variants in the RNU12 gene have been reported as causative of the CDAGS syndrome [77], characterized by craniosynostosis, delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, anal and genitourinary malformations, and skin manifestations.