Borjeson-Forssman-Lehmann syndrome (DOID:0050681)
Alliance: disease page
Synonyms: BFLS; BORJ; Borjeson syndrome; intellectual deficiency-epilepsy-endocrine disorders syndrome; mental retardation, epilepsy, and endocrine disorder; MRXSBFL; syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type
Alt IDs: OMIM:301900, MESH:C536575, NCI:C157122, ORDO:127, UMLS_CUI:C0265339
Definition: An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene.