Mutations in GLI2 have been identified in patients with orofacial cleft (Bertolacini, Ribeirobicudo, Petrin, Richiericosta, & Murray, 2012; Mo et al., 1997; Simioni, Araujo, Monlleo, Maurer‐Morelli, & Gil‐Da‐Silva‐Lopes, 2015; Vieira et al., 2005), holoprosencephaly (Bear et al., 2014; Kevelam et al., 2012), and pituitary anomalies (Roessler et al., 2003, 2005). Here, GLI2 is linked to holoprosencephaly.