Abnormal diaphysis morphology, Abnormal fingernail morphology, Abnormal form of the vertebral bodies, Abnormal hair morphology, Abnormal nasopharynx morphology, Abnormal testis morphology, Abnormal thorax morphology, Abnormality iris morphology, Abnormality of dental morphology, Abnormality of skin pigmentation, Abnormality of the ear, Abnormality of the metaphysis, Abnormality of the nail, Abnormality of the nose, Abnormality of the orbital region, Abnormality of the pinna, Abnormality of vision, Absent middle phalanx of 5th finger, Anteverted nares, Aortic valve stenosis, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the middle phalanges of the hand, Arrhythmia, Ataxia, Atrial septal defect, Atrioventricular canal defect, Basal ganglia calcification, Blepharophimosis, Bony paranasal bossing, Brachycephaly, Brachydactyly, Brittle hair, Broad alveolar ridges, Broad columella, Broad long bones, Camptodactyly of finger, Carious teeth, Cataract, Cerebral calcification, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Club-shaped distal femur, Coarctation of aorta, Coarse facial features, Conductive hearing impairment, Congenital alopecia totalis, Congestive heart failure, Corneal opacity, Cranial hyperostosis, Craniofacial hyperostosis, Cubitus valgus, Curly hair, Cutaneous photosensitivity, Cyanosis, Deeply set eye, Delayed eruption of permanent teeth, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Dental malocclusion, Depressed nasal bridge, Diabetes mellitus, Downslanted palpebral fissures, Dry hair, Dry skin, Dysarthria, Dystrophic fingernails, Enamel hypoplasia, Epicanthus, Epidermal acanthosis, Erythema, External ear malformation, Facial hyperostosis, Facial palsy, Failure to thrive, Fifth finger distal phalanx clinodactyly, Fine hair, Finger syndactyly, Fingernail dysplasia, First degree atrioventricular block, Flared metaphysis, Fragile nails, Frontal bossing, Gait disturbance, Generalized hirsutism, Glaucoma, Global developmental delay, Hand polydactyly, Hearing impairment, High forehead, High hypermetropia, Hip dislocation, Hyperactive deep tendon reflexes, Hypergranulosis, Hyperkeratosis, Hypermelanotic macule, Hyperostosis, Hyperreflexia, Hypertelorism, Hypertension, Hypoglycemia, Hypoplasia of teeth, Hypoplasia of the maxilla, Hypoplastic left heart, Hypotelorism, Inlet ventricular septal defect, Intellectual disability, Irregular hyperpigmentation, Joint contracture of the 5th finger, Keratosis pilaris, Large earlobe, Large fontanelles, Leukonychia, Long nose, Long philtrum, Low hanging columella, Low-set ears, Macrocephaly, Macrodontia of permanent maxillary central incisor, Macule, Madelung deformity, Mandibular prognathia, Median cleft upper lip, Metaphyseal dysplasia, Microcephaly, Microcornea, Microdontia, Micrognathia, Microphthalmia, Midsystolic murmur, Mild global developmental delay, Mixed hearing impairment, Muscle weakness, Myopia, Nail dysplasia, Narrow mouth, Narrow nasal bridge, Narrow nose, Nasal congestion, Neoplasm of the skin, Neurogenic bladder, Non-midline cleft of the upper lip, Nystagmus, Optic atrophy, Osteopetrosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Paraparesis, Patchy palmoplantar hyperkeratosis, Patchy sclerosis of finger phalanx, Persistent pupillary membrane, Preaxial hand polydactyly, Premature loss of primary teeth, Premature loss of teeth, Primum atrial septal defect, Protruding ear, Pulmonary arterial hypertension, Seizure, Selective tooth agenesis, Sensorineural hearing impairment, Short 5th finger, Short foot, Short hallux, Short middle phalanx of the 5th finger, Short nose, Short palpebral fissure, Short stature, Short toe, Skeletal dysplasia, Skin plaque, Skin rash, Slow-growing hair, Small hand, Sparse eyelashes, Sparse hair, Spastic paraparesis, Spasticity, Strabismus, Syndactyly, Tapered finger, Taurodontia, Telecanthus, Tetraparesis, Thin anteverted nares, Thin vermilion border, Toe syndactyly, Tooth agenesis, Umbilical hernia, Underdeveloped nasal alae, Upslanted palpebral fissure, Ventricular septal defect, Vertebral hyperostosis, Visual impairment, Weight loss, Wide nasal bridge, obsolete Hypotrichosis

abnormal cerebellar Purkinje cell layer, abnormal cerebellar cortex morphology, abnormal cerebellar granule layer morphology, abnormal cerebellar lobule formation, abnormal cerebellum external granule cell layer morphology, abnormal coronary artery morphology, abnormal coronary vein morphology, abnormal coronary vessel morphology, abnormal cortical ventricular zone morphology, abnormal craniofacial bone morphology, abnormal craniofacial morphology, abnormal cranium morphology, abnormal dentate gyrus morphology, abnormal epidermis stratum corneum morphology, abnormal epidermis stratum granulosum morphology, abnormal glial cell physiology, abnormal granulosa cell morphology, abnormal heart development, abnormal heart rate, abnormal heart right ventricle outflow tract morphology, abnormal heart shape, abnormal impulse conducting system conduction, abnormal lactation, abnormal mammary gland growth during pregnancy, abnormal motor capabilities/coordination/movement, abnormal muscle regeneration, abnormal myocardial fiber physiology, abnormal myocardium layer morphology, abnormal nasal bone morphology, abnormal nervous system development, abnormal neural plate morphology, abnormal neurocranium morphology, abnormal occipital bone morphology, abnormal oculomotor nerve morphology, abnormal osteoblast differentiation, abnormal osteoblast physiology, abnormal ovarian follicle morphology, abnormal phalanx morphology, abnormal postnatal subventricular zone morphology, abnormal proerythroblast morphology, abnormal pulmonary gas exchange, abnormal radial glial cell morphology, abnormal semilunar valve morphology, abnormal skin condition, abnormal spermatid morphology, abnormal spermatocyte morphology, abnormal spermatogonia morphology, abnormal spinal nerve morphology, abnormal suckling behavior, abnormal superovulation, abnormal tooth development, abnormal tooth hard tissue morphology, abnormal trabecula carnea morphology, abnormal vascular smooth muscle physiology, abnormal vascular wound healing, abnormal zygomatic arch morphology, absent corpus luteum, absent mature ovarian follicles, absent trochlear nerve, arrest of spermatogenesis, behavior/neurological phenotype, brittle teeth, cardiac fibrosis, cardiovascular system phenotype, collapsed brain ventricles, coronary artery aneurysm, decreased QRS amplitude, decreased birth body size, decreased birth weight, decreased body size, decreased bone marrow cell number, decreased bone mineral content, decreased bone strength, decreased cardiac muscle contractility, decreased germ cell number, decreased granulosa cell proliferation, decreased litter size, decreased male germ cell number, decreased mature ovarian follicle number, decreased systemic arterial systolic blood pressure, decreased testis weight, decreased trabecular bone mass, decreased tympanic ring size, decreased ventricle muscle contractility, delaminated Purkinje cell layer, delaminated cerebellar granule layer, delayed bone ossification, delayed endochondral bone ossification, delayed intramembranous bone ossification, delayed neural tube closure, dilated heart left ventricle, dilated vasculature, ectopic cerebellar granule cells, embryo phenotype, enlarged lateral ventricles, hearing/vestibular/ear phenotype, heart inflammation, heart right ventricle outflow tract stenosis, impaired luteinization, impaired ovarian folliculogenesis, impaired skin barrier function, incomplete rostral neuropore closure, increased Sertoli cell number, increased granulosa cell apoptosis, integument phenotype, interparietal bone hypoplasia, irregularly shaped pupil, lethality throughout fetal growth and development, complete penetrance, lethality throughout fetal growth and development, incomplete penetrance, neonatal lethality, complete penetrance, nervous system phenotype, no abnormal phenotype detected, perinatal lethality, complete penetrance, perinatal lethality, incomplete penetrance, pointed snout, poor grooming, postnatal lethality, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, pregnancy-related premature death, premature death, prenatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, preweaning lethality, incomplete penetrance, prolonged P wave, prolonged QRS complex duration, reduced enamel thickness, reduced female fertility, reproductive system phenotype, semilunar valve regurgitation, short zygomatic bone, small cerebellum, small cranium, small frontal bone, small heart, small hippocampus, small mandible, small maxilla, small nasal bone, small neurocranium, small ovary, small seminiferous tubules, small snout, small trigeminal ganglion, thick aortic valve, thick pulmonary valve, thin external granule cell layer, thin myocardium compact layer, thin parietal bone, thin ventricle myocardium compact layer, thin ventricular wall