Deletion of MAP2K1 (also known as MEK1) is not known to be associated with developmental phenotypes. Sequence-level gain-of-function-type mutations of MAP2K1 are associated with Noonan syndrome with and without multiple lentigines and cardio-facio-cutaneous syndrome.
Duplication of MAP2K1 (also known as MEK1) is not known to be associated with developmental phenotypes. Sequence-level gain-of-function-type mutations of MAP2K1 are associated with Noonan syndrome with and without multiple lentigines and cardio-facio-cutaneous syndrome.