PAX6 and neurodevelopmental disorder: Furthermore, mutations in PAX6 have been implicated in neurodevelopmental disorders such as autism spectrum disorder (ASD) (Kikkawa et al., 2019; Yamamoto et al., 2014), with several patients exhibiting not only eye phenotypes but also behavioral issues like cognitive dysfunction, linguistic impairment, social defects, and motor impairment (Davis et al., 2008; Graziano et al., 2007; Heyman et al., 1999; Maekawa et al., 2009; Malandrini et al., 2001; Ticho et al., 2006).