Intellectual Developmental Disorder, Autosomal Dominant 5

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - MRD5 - Mental Retardation, Autosomal Dominant 5