C12orf57 and microphthalmia: Besides, C12orf57 is associated with Temtamy syndrome comprised of hypotonia, moderate to severe ID with ASD features, corpus callosum hypoplasia, seizures, and microphthalmia (Akizu et al., 2013; Salih et al., 2013; Zahrani et al., 2013; Wang et al., 2019).