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Browse result for Cataract-intellectual disability-hypogonadism syndrome

※ introduction

    B?rjeson-Forssman-Lehmann syndrome (BFLS) is a rare genetic disease that causes intellectual disability, obesity, and growth defects.

Reference
Wiki: Cataract-intellectual disability-hypogonadism syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD12704Q9H2M925782
RAB3GAP2
Rab3 GTPase-activating protein non-catalytic subunit
Homo sapiens