WES successfully identified BBSOAS patients among individuals with previously unsolved/unspecific forms of ID [227,228] or epilepsy [229], and the comparison of NGS data helped in compiling the annotation of numerous additional NR2F1 variants in online repositories [230], comprising VUS (variants of unknown significance), likely benign variants and likely pathogenic variants. This evidence concerns the gene NR2F1 and Bosch-Boonstra-Schaaf optic atrophy syndrome.