The Vacuolar Protein Sorting 13 homolog B (VPS13B, also known as COH1, MIM #607817) is a gene associated with Cohen syndrome (CS, OMIM #216550), a rare autosomal recessive neurodevelopmental disorder overrepresented in Finland and common in Amish, Irish travelers and Greek/Mediterranean founder populations [37], [38]. This evidence concerns the gene VPS13B and Cowden syndrome 1.