SMARCA4 and Coffin-Siris syndrome: We identified three variants in two genes associated with Coffin–Siris syndrome (SMARCA4, SOX4), two variants in ADNP (Helsmoortel van der Aa syndrome), one variant in SMARCA2 (Nicolaides–Baraitser syndrome), and one variant in ACTL6B (Intellectual developmental disorder), all of which are associated with BAF (SWI/SNF) complex [35,36].