The third variant, is in plant homeodomain (PHD)-like finger protein 6 (PHF6; NM_001015877.1: p.Leu244del), which has been associated with X-linked Borjeson–Forssman–Lehmann syndrome (BFLS; MIM #301900); one female patient has been reported with a loss of function allele and X-inactivation (Turner et al., 2004). The gene discussed is PHF6; the disease is Borjeson-Forssman-Lehmann syndrome.