label: Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type
label_lc: mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type
description: "An X-linked recessive condition caused by mutation(s) in the PHF6 gene, encoding PHD finger protein 6. It is characterized by severe intellectual disability, epilepsy, hypogonadism, hypometabolism, and obesity."