The PHD finger protein, homeodomain finger protein 6 (PHF6), is a highly conserved, 365 amino acid, 41kDa protein, that was first identified in the X-linked neurodevelopmental disorder, Börjeson-Forssman-Lehmann syndrome (BFLS) (2, 3). Here, PHF6 is linked to Borjeson-Forssman-Lehmann syndrome.