“…As of today, 32 families with a total of 76 affected individuals have been reported, mainly from the Middle East, with a possible founder pathogenic variant c.436delC in the DCAF17 gene (S. A. Bohlega & Alkuraya, 2016). Other cases were reported from Europe, Turkey, Japan, Portugal, and the Indian sub‐continent with different pathogenic variants (Abdulla et al, 2015; Agopiantz et al, 2014; A. Alazami et al, 2010; Alazami et al, 2008; Ali et al, 2016; S. A. Bohlega & Alkuraya, 2016; Crandall et al, 1973; Devriendt et al, 1996; Gül et al, 2000; Habib et al, 2011; Koshy et al, 2008; Kurnaz et al, 2019; Louro et al, 2019; Matsuno et al, 2017; Medica et al, 2007; Sendur et al, 2019; Shah et al, 2020; Tatar et al, 2009).…”