Aplasia cutis congenita, Aplasia/Hypoplasia of the nails, Bifid nasal tip, Bifid uvula, Brachydactyly, Bulbous nose, Cataract, Cleft palate, Conical tooth, Deep palmar crease, Deep philtrum, Deep plantar creases, Dolichocephaly, Downslanted palpebral fissures, Facial hypertrichosis, Generalized hyperpigmentation, Generalized hypertrichosis, Generalized hypotonia, Gingival fibromatosis, Gingival overgrowth, Growth delay, Hallux valgus, Hepatomegaly, Hidrotic ectodermal dysplasia, High forehead, High palate, Hypertelorism, Hypodontia, Hypoplastic fingernail, Hypoplastic toenails, Infantile muscular hypotonia, Intellectual disability, Joint hypermobility, Kyphosis, Large fleshy ears, Long eyelashes, Macroglossia, Micrognathia, Nail dystrophy, Oligodontia, Overtubulated long bones, Pes cavus, Pes planus, Poor speech, Prominent nasal septum, Seizure, Selective tooth agenesis, Sensorineural hearing impairment, Severe sensorineural hearing impairment, Short neck, Short stature, Short thumb, Small nail, Small, conical teeth, Soft skin, Splenomegaly, Supernumerary tooth, Synophrys, Telecanthus, Thick eyebrow, Thick vermilion border, Thickened ears, Toe syndactyly, Triphalangeal thumb, Underdeveloped nasal alae, Wide mouth, Wide nasal bridge, Wide nose, Widow's peak

embryonic lethality prior to organogenesis, embryonic lethality prior to tooth bud stage, environmentally induced seizures, growth/size/body region phenotype, hearing/vestibular/ear phenotype, impaired passive avoidance behavior, increased circulating alkaline phosphatase level, preweaning lethality, complete penetrance, slow postnatal weight gain, small adrenal glands, small lymph nodes