Specifically, pathogenic heterozygous variants in RAF1 cause LEOPARD syndrome 2 and Noonan syndrome 5 in humans (OMIM 164760), where affected patients have, among other features, short stature, dolichocephaly, hypertrophic cardiomyopathy, pulmonary valve stenosis, and neurodevelopmental delay [42, 43]. This evidence concerns the gene RAF1 and LEOPARD syndrome 2.