TOR1A and Global developmental delay: More broadly, mutations in torsinA, LINC complex proteins, and their interacting partners have been implicated in numerous human diseases ranging from recessive neurological disorders associated with developmental delays to cardiomyopathy and muscular dystrophies (Luxton and Starr, 2014; Sewry and Goebel, 2014; Rebelo et al., 2015; Ghaoui et al., 2016; Janin et al., 2017; Kariminejad et al., 2017; Reichert et al., 2017).