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). The gene discussed is SAR1B; the disease is congenital dyserythropoietic anemia.