DISEASES

Disease-gene associations mined from literature

Human genes for Borjeson-Forssman-Lehmann syndrome

Borjeson-Forssman-Lehmann syndrome [DOID:0050681]

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.

Synonyms:  Borjeson-Forssman-Lehmann syndrome,  BorjesonForssmanLehmann syndrome,  Borjeson-Forssman-Lehmann disease,  Borjeson-Forssman-Lehmann disorder,  Borjeson-Forssman-Lehmann syndromes ...

Linkouts:  OMIM