RASopathies are a group of rare genetic conditions defined by germline alterations in the RAS-MAPK pathway that often result in constitutive activation of the phosphoinositide 3-kinase (PI3K), RAF and mammalian target of rapamycin (mTOR) pathways located downstream of RAS (Ratner and Miller, 2015). This evidence concerns the gene MTOR and RASopathy.