label: Mental Retardation, Autosomal Dominant 5
label_lc: mental retardation, autosomal dominant 5
description: "An autosomal dominant condition caused by mutation(s) in the SYNGAP1 gene, encoding Ras/Rap GTPase-activating protein SynGAP. It is characterized by intellectual disability, with most patients developing generalized epilepsy, with some having autism spectrum disorder."