So far, mutations in SMARCA2 have only been observed in patients with a clear NCBRS phenotype, and patients who had been clinically diagnosed with CSS and found to harbor a SMARCA2 mutation had to be reclassified as having NCBRS upon second look (Wieczorek et al., 2013; Tsurusaki et al., 2014b). Here, SMARCA2 is linked to intellectual disability-sparse hair-brachydactyly syndrome.