NR2F1 and Bosch-Boonstra-Schaaf optic atrophy syndrome: The presence of cortical malformations in BBSOAS patients links the NR2F1 gene to the heterogeneous group of neurodevelopmental diseases, called malformations of cortical development (MCD), in which structural brain anomalies and abnormal gyrification are associated with syndromic features, such as mild to moderate ID, infantile spasms and impaired oromotor skills (Jansen and Andermann, 2005; Manzini and Walsh, 2011; Barkovich et al., 2012; Guerrini and Dobyns, 2014; Parrini et al., 2016; Juric-Sekhar and Hevner, 2019).