Noonan Syndrome 8 (NS8)

Noonan Syndrome 8, also known as ns8, is related to megalencephaly-capillary malformation-polymicrogyria syndrome and western equine encephalitis. An important gene associated with Noonan Syndrome 8 is RIT1 (Ras Like Without CAAX 1), and among its related pathways/superpathways is Neurotrophic factor-mediated Trk receptor signaling. Affiliated tissues include heart and skin, and related phenotypes are hypertrophic cardiomyopathy and hypertelorism