※ PTMD 2.0 database Online Browse Options

Browse result for Boerjeson-Forssman-Lehmann syndrome

※ introduction

    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.

Reference
DiseaseOntology: Boerjeson-Forssman-Lehmann syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD09334Q8IWS084295
PHF6
PHD finger protein 6
Homo sapiens