Amniotic constriction ring, Aplasia/Hypoplasia of the eyebrow, Arthritis, Autoamputation of digits, Blindness, Carious teeth, Cerebellar hypoplasia, Cleft palate, Cognitive impairment, Corneal erosion, Corneal neovascularization, Corneal scarring, Corneal ulceration, Cryptorchidism, Delayed eruption of teeth, Delayed skeletal maturation, Dystrophic fingernails, Dystrophic toenail, Elbow flexion contracture, Erythema, Erythroderma, Fine hair, Furrowed tongue, Generalized hyperkeratosis, Hearing impairment, Hemiplegia/hemiparesis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Hypogonadotropic hypogonadism, Hypohidrosis, Hypoplastic fingernail, Hypoplastic toenails, Ichthyosis, Intellectual disability, Keratitis, Keratoconjunctivitis sicca, Knee flexion contracture, Leukonychia, Macule, Nail dysplasia, Nail dystrophy, Neoplasm, obsolete Hypotrichosis, obsolete Sparse and thin eyebrow, Oral leukoplakia, Osteolysis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Papule, Pes cavus, Photophobia, Progressive visual loss, Punctate keratitis, Recurrent bacterial skin infections, Recurrent corneal erosions, Reduced tendon reflexes, Scarring alopecia of scalp, Self-injurious behavior, Sensorineural hearing impairment, Severe global developmental delay, Short stature, Skin ulcer, Sparse eyelashes, Sparse hair, Squamous cell carcinoma, Squamous cell carcinoma of the skin, Subcutaneous nodule, Thickened skin, Trichiasis, Urticaria, Visual impairment

abnormal placental transport, abnormal plasma membrane morphology, abnormal tail morphology, absent mandible, cardiovascular system phenotype, cochlear ganglion degeneration, cochlear hair cell degeneration, cochlear outer hair cell degeneration, deafness, decreased body size, decreased embryo size, decreased endocochlear potential, decreased fetal size, decreased placental labyrinth size, degeneration of organ of Corti supporting cells, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, epidermal hyperplasia, fetal growth retardation, impaired skin barrier function, increased keratinocyte proliferation, increased or absent threshold for auditory brainstem response, lethality throughout fetal growth and development, complete penetrance, no abnormal phenotype detected, organ of Corti degeneration, postnatal lethality, incomplete penetrance, prenatal lethality, complete penetrance, prenatal lethality, incomplete penetrance, sensorineural hearing loss, shiny skin, short tail, vision/eye phenotype