Borjeson-Forssman-Lehmann syndrome Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description 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. (Human Disease Ontology, DOID_0050681)
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1 genes/proteins associated with the disease Borjeson-Forssman-Lehmann syndrome from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
PHF6 PHD finger protein 6 2.88009