PHF6 and Borjeson-Forssman-Lehmann syndrome: Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked neurodevelopmental disorder caused by pathogenic variants in the plant homeodomain finger protein 6 (PHF6) gene, typically associated with intellectual disability, hypotonia, dysmorphic features, endocrinological abnormalities, epilepsy, and global developmental impairment.