High forehead, Hyperactivity, Hypermetropia, Hypertelorism, Intellectual disability, Long eyelashes, Long face, Long philtrum, Low-set ears, Microcephaly, Microtia, Narrow mouth, Pes planus, Plagiocephaly, Posteriorly rotated ears, Sandal gap, Seizure, Short attention span, Short foot, Short stature, Small hand, Strabismus, Tapered finger

abnormal vocalization, absent keratohyalin granules, absent pinna reflex, deafness, decreased body size, decreased circulating iron level, decreased endocochlear potential, decreased erythrocyte cell number, decreased grip strength, decreased hair follicle number, decreased hematocrit, decreased hemoglobin content, decreased mean corpuscular volume, decreased prepulse inhibition, decreased startle reflex, epidermal hyperplasia, excessive cerumen, eyelids open at birth, hearing/vestibular/ear phenotype, increased fasting circulating glucose level, increased lean body mass, increased red blood cell distribution width, increased startle reflex, increased susceptibility to otitis media, increased total body fat amount, middle ear effusion, middle ear polyps, neonatal lethality, complete penetrance, neonatal lethality, incomplete penetrance, perinatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, tympanic membrane retraction