Abnormality of the nervous system, Abnormality of the voice, Absence of Stensen duct, Absent eyelashes, Absent hand, Absent lacrimal punctum, Absent nipple, Adermatoglyphia, Alopecia of scalp, Anhidrosis, Anhidrotic ectodermal dysplasia, Aniridia, Ankyloblepharon, Anonychia, Anterior hypopituitarism, Aplasia of the ovary, Aplasia of the uterus, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of the breasts, Aplasia/Hypoplasia of the nipples, Aplasia/Hypoplasia of the phalanges of the hand, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/Hypoplasia of the skin, Aplasia/Hypoplasia of the thumb, Atresia of the external auditory canal, Bicornuate uterus, Bifid uvula, Bilateral breast hypoplasia, Bladder diverticulum, Blepharitis, Blepharophimosis, Blue irides, Brachydactyly, Breast aplasia, Breast hypoplasia, Camptodactyly, Carious teeth, Central diabetes insipidus, Choanal atresia, Chronic irritative conjunctivitis, Cleft hard palate, Cleft lip, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Coarse facial features, Coarse hair, Conductive hearing impairment, Conical tooth, Conjunctivitis, Corneal erosion, Cryptorchidism, Cutaneous photosensitivity, Dacryocystitis, Decreased number of sweat glands, Decreased response to growth hormone stimulation test, Delayed eruption of teeth, Depressed nasal bridge, Depressed nasal tip, Dermal atrophy, Dry skin, Duplicated collecting system, Dystrophic fingernails, Dystrophic toenail, Ectodermal dysplasia, Ectrodactyly, Eczema, Entropion, External ear malformation, Fair hair, Fine hair, Finger syndactyly, Fingernail dysplasia, Flexion contracture, Freckling, Frontal bossing, Generalized hyperpigmentation, Generalized hypopigmentation, Hallux valgus, Hearing impairment, High axial triradius, High forehead, Hoarse voice, Hydronephrosis, Hydroureter, Hyperconvex fingernails, Hyperconvex nail, Hyperkeratosis, Hyperpigmentation of the skin, Hypodontia, Hypogonadotropic hypogonadism, Hypohidrosis, Hypoplasia of the maxilla, Hypoplasia of the thymus, Hypoplastic fingernail, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Inflammatory abnormality of the eye, Intellectual disability, Joint contracture of the hand, Keratitis, Lacrimal duct atresia, Lacrimation abnormality, Lymphoma, Malar flattening, Megacystis, Melanocytic nevus, Microdontia, Micrognathia, Micropenis, Microtia, Multiple cafe-au-lait spots, Nail dysplasia, Nail dystrophy, Nail pits, Narrow mouth, Narrow nose, Nasolacrimal duct obstruction, Nevus, Non-midline cleft of the upper lip, Oligodactyly, Oligodontia, Onychogryposis, Orofacial cleft, Oval face, Ovarian cyst, Palmoplantar keratoderma, Patchy alopecia, Patent ductus arteriosus, Photophobia, Pili canaliculi, Premature loss of permanent teeth, Primary amenorrhea, Progressive alopecia, Prominent forehead, Prominent nasal bridge, Protruding ear, Proximal placement of thumb, Psoriasiform dermatitis, Ptosis, Recurrent otitis media, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia, Selective tooth agenesis, Sensorineural hearing impairment, Short stature, Single transverse palmar crease, Skin ulcer, Slow-growing hair, Small nail, Small, conical teeth, Sparse axillary hair, Sparse body hair, Sparse eyebrow, Sparse eyelashes, Sparse hair, Sparse pubic hair, Sparse scalp hair, Split foot, Split hand, Submucous cleft hard palate, Submucous cleft soft palate, Supernumerary nipple, Syndactyly, Taurodontia, Thick eyebrow, Thin skin, Toe syndactyly, Toenail dysplasia, Tooth agenesis, Transverse vaginal septum, Triphalangeal thumb, Underdeveloped nasal alae, Ureterocele, Ureterovesical stenosis, Urethral atresia, Urethral stenosis, Vaginal dryness, Velopharyngeal insufficiency, Ventricular septal defect, Vesicoureteral reflux, Wide intermamillary distance, Wide nasal bridge, Widely spaced teeth, Xerostomia, obsolete Hypotrichosis, obsolete Sparse and thin eyebrow

abnormal esophageal squamous epithelium morphology, abnormal esophagus development, abnormal female reproductive system morphology, abnormal forelimb morphology, abnormal hair follicle development, abnormal horizontal basal cell of olfactory epithelium morphology, abnormal humerus morphology, abnormal keratinocyte differentiation, abnormal keratinocyte morphology, abnormal keratinocyte physiology, abnormal limb bud morphology, abnormal limb development, abnormal limb morphology, abnormal mitochondrial physiology, abnormal olfactory epithelium morphology, abnormal olfactory gland morphology, abnormal palatal shelf fusion at midline, abnormal phalanx morphology, abnormal primitive urogenital sinus morphology, abnormal prostate gland branching morphogenesis, abnormal secondary palate development, abnormal septation of the cloaca, abnormal skin condition, abnormal skin development, abnormal stomach epithelium morphology, abnormal stomach non-glandular epithelium morphology, abnormal tongue epithelium morphology, abnormal tooth development, abnormal tooth root morphology, abnormal tracheal ciliated epithelium morphology, abnormal urinary bladder detrusor smooth muscle morphology, abnormal urinary bladder urothelium morphology, abnormal uterine cervix epithelium morphology, abnormal vagina epithelium morphology, abnormal ventral body wall morphology, absent apical ectodermal ridge, absent epidermis, absent epidermis stratum corneum, absent epidermis stratum granulosum, absent epidermis stratum spinosum, absent gastric milk in neonates, absent hair follicles, absent hindlimb, absent limbs, absent oviduct, absent prostate gland, absent pubic symphysis, absent salivary gland, absent sebaceous gland, absent teeth, absent tongue squamous epithelium, absent tooth placode, absent urinary bladder urothelium, absent vibrissae, acanthosis, aneuploidy, chromosomal instability, circling, craniofacial phenotype, decreased apoptosis, decreased cell proliferation, decreased cellular sensitivity to ionizing radiation, decreased fetal size, decreased hair follicle number, decreased keratinocyte proliferation, dermal-epidermal separation, early cellular replicative senescence, embryo phenotype, embryonic lethality, incomplete penetrance, enlarged lymph nodes, esophagogastric junction metaplasia, gastric cyst, gastric metaplasia, homeostasis/metabolism phenotype, impaired skin barrier function, impaired wound healing, increased apoptosis, increased histiocytic sarcoma incidence, increased lung adenoma incidence, increased malignant tumor incidence, increased tumor incidence, integument phenotype, limbs/digits/tail phenotype, muscle phenotype, neonatal lethality, complete penetrance, no abnormal phenotype detected, perinatal lethality, complete penetrance, perinatal lethality, incomplete penetrance, premature aging, premature death, prenatal lethality, complete penetrance, preweaning lethality, incomplete penetrance, reproductive system phenotype, ruffled hair, shiny skin, skin lesions, small limb buds, small mandible, small maxilla, small tail bud, small uterus, thick dermal layer, thick epidermis stratum basale, thick epidermis stratum spinosum, thin urinary bladder urothelium, weakness