MVID and variants of MVID are associated with MYO5B, STXBP2 and STX3 mutations (Table 1) (Müller et al., 2008; Ruemmele et al., 2010; Stepensky et al., 2013; Szperl et al., 2011; Wiegerinck et al., 2014). Here, STXBP2 is linked to microvillus inclusion disease.