Mutations in the NR2F1 gene lead to an emerging NDD, called Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), a condition characterized by cognitive and visual impairments (Chen et al., 2016; Bosch et al., 2014; Rech et al., 2020; Bertacchi et al., 2022). Here, NR2F1 is linked to Bosch-Boonstra-Schaaf optic atrophy syndrome.