Luscan-Lumish syndrome (also known as SETD2-related neurological disorder) is mainly characterized by macrocephaly, tall stature and ID/DD, which is similar to a series of disorders with overgrowth and learning disability containing Sotos syndrome, Mylan syndrome, Weaver syndrome, Cohen-Gibson syndrome and so forth (Pappas et al., 1993). Here, SETD2 is linked to Cohen-Gibson syndrome.