First, we performed a profound literature search on missense variants in VPS13B in cases of Cohen syndrome, autism, intellectual disability, retinal disease, primary immunodeficiency disease, and short stature using Pubmed (https://www.ncbi.nlm.nih.gov/pubmed/) and HGMD (http://www.hgmd.cf.ac.uk/ac/index.php). The gene discussed is VPS13B; the disease is Cohen syndrome.