In humans, NR2F1 has recently emerged as a disease gene: multiple NR2F1 pathological variants cause Bosch-Boonstra-Schaaf optic atrophy syndrome [BBSOAS; Online Mendelian Inheritance in Man (OMIM) 615722], a rare, monogenic autosomal-dominant disorder characterized by multiple clinical features, including global developmental delay, mild-to-severe intellectual disability (ID), optic nerve atrophy, vision impairments, seizures and traits characteristic of autism spectrum disorder (Bosch et al., 2014; Chen et al., 2016; Kaiwar et al., 2017). The gene discussed is NR2F1; the disease is Optic atrophy-intellectual disability syndrome.