CLSD (OMIM #607812) is a syndrome characterized by facial dysmorphism, late-closing fontanels, congenital cataracts, and skeletal defects caused by monoallelic or biallelic mutations in the Sec23A gene (Boyadjiev et al., 2006, 2011). The gene discussed is SEC23A; the disease is early-onset non-syndromic cataract.