Intellectual Developmental Disorder, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - BFLS - Borjeson-Forssman-Lehmann Syndrome - MRXSBFL - Mental Retardation, Epilepsy, and Endocrine Disorders - Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type