Variants in several subunits of the BAF complex are causative for Coffin–Siris syndrome (CSS [MIM #135900, #614607, #614608, #614609, #616938, #617808, #618362, #618779 ]), a NDD with multiple anomalies46,47, phenotypically overlapping with BFLS due to de novo variants in PHF6 in young female individuals5. Here, BANF1 is linked to Borjeson-Forssman-Lehmann syndrome.