RAB23 and Cowden syndrome 1: Pathogenic SNVs in RAB23 are associated with Carpenter Syndrome (CS) a rare genetic disorder characterized by craniosynostosis of the face and skull, polydactyly, brachydactyly, heart and eye defects, structural and functional central nervous system (CNS) abnormalities (OMIM #201000) (Taravath and Tonsgard, 1993; Kadakia et al., 2014).