Borjeson-Forssman-Lehmann syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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 associated with the Borjeson-Forssman-Lehmann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
PHF6 PHD finger protein 6