Pathogenic variants in the BAF complex are known to cause CSS, Nicolaides-Baraitser syndrome (NCBRS, MIM 601358), Borjeson-Forssman-Lehmann syndrome (BFLS, OMIM 301900), and other CSS-like conditions (BICRA and SMARCD1) (Wieczorek et al., 2013; Kosho and Okamoto, 2014). The gene discussed is SMARCD1; the disease is Borjeson-Forssman-Lehmann syndrome.