Interestingly, mutations in Sec23A, Sec23B, Sec24D, and Sar1b present in humans with largely non-neuronal clinical phenotypes of cranio-lenticulo-sutural dysplasia, congenital dyserythropoietic anemia, a syndromic form of osteogenesis imperfecta and lipid absorption disorders (Boyadjiev et al., 2006, Garbes et al., 2015, Jones et al., 2003, Schwarz et al., 2009). Here, SEC23A is linked to osteogenesis imperfecta.