NR2F1 and Bosch-Boonstra-Schaaf optic atrophy syndrome: At present, patients with NR2F1 haploinsufficiency are diagnosed for the Bosch‐Boonstra‐Schaaf optic atrophy syndrome (BBSOAS), an emerging neurodevelopmental autosomal dominant disorder (OMIM #615722; ORPHANET #401777) leading to a broad range of clinical phenotypes associated with visual and cognitive deficits reviewed in Bertacchi et al (2018).