RAF1 mutations in humans have been implicated in two specific RASopathies, Noonan syndrome and Noonan syndrome with multiple lentigines (NSML, formerly known as LEOPARD syndrome), both of which are characterized by dysmorphic craniofacial features, congenital heart defects, and short stature, among other clinical features [44]. Here, RAF1 is linked to Noonan syndrome with multiple lentigines.