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