Fig. 1.

Clinical photographs of selected study patients with a clinical diagnosis of Nicolaides-Baraitser syndrome. SMARCA2_1 (a), SMARCA2_2 (b) and SMARCA2_6 (c) were part of the signature derivation case group and share the coarse facial features, thick eyebrows, progressive eversion of the lower lip and prognathism associated with NCBRS. These features are most pronounced in the eldest individual, SMARCA2_1 (a), and are known to progress with age. SMARCA2_10 (d), SMARCA2_14 (e), and SMARCA2_4 (f) also show phenotypic features consistent with NCBRS, have variants of uncertain significance in SMARCA2 and were part of the SMARCA2 test variant group