VPS13B and Cowden syndrome 1: Truncal obesity, intellectual disability, developmental delay, joint laxity, craniofacial dysmorphism, high myopia and/or retinal dystrophy and neutropenia are typical clinical manifestations of the syndrome [1, 2].At present, CS has been essentially assigned to mutations in the VPS13B gene (MIM# 607817) among patients from diverse ethnicity.