Within the nervous system, mutations in PHF6 have been detected in the developmental disorders Börjeson-Forssmann-Lehmann (BFLS; OMIM 301900) and Coffin–Siris (CSS; OMIM 135900) syndromes (Lower et al., 2002; Tsurusaki et al., 2012; Wieczorek et al., 2013). Here, PHF6 is linked to Borjeson-Forssman-Lehmann syndrome.