Term Name: Borjeson-Forssman-Lehmann syndrome
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
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.
Ontology: Human Disease [DOID:0050681]   ( DOID:0050681 )

Relationships
is a type of: syndromic X-linked intellectual disability X-linked recessive disease