|Dataset||CTD Gene-Disease Associations|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
1 genes/proteins associated with the disease Borjeson-Forssman-Lehmann syndrome from the curated CTD Gene-Disease Associations dataset.
|PHF6||PHD finger protein 6||2.88009|