Thus far, 62 missense mutations and three in‐frame deletions clustering in the ATPase domains of exons 15–25 of SMARCA2 have been reported in patients with NCBRS [Sousa and Hennekam, 2014; Bramswig et al., 2015; Ejaz et al., 2016] (see Fig. 3 for schematic diagram of SMARCA2 protein and location of mutations). This evidence concerns the gene SMARCA2 and intellectual disability-sparse hair-brachydactyly syndrome.