Patients with AP1S2 mutation are described to have some dysmorphic features should be noted: short stature, micropenis, macrocephaly, high forehead, and sagging lips, abnormality of the outer ear (protruding ears and long ears), abnormality of the eye (strabismus and hypermetropia), long nose and face, small pointed jaw, and supernumerary nipple. Here, AP1S2 is linked to hyperopia.