Abnormal heart valve morphology, Abnormal hypothalamus morphology, Abnormality of coagulation, Abnormality of the chin, Abnormality of the dentition, Abnormality of the face, Abnormality of the gastrointestinal tract, Abnormality of the genital system, Abnormality of the lymphatic system, Abnormality of the orbital region, Abnormality of the pulmonary artery, Abnormality of the respiratory system, Abnormality of the spleen, Abnormality of the voice, Abnormality of vision, Abnormal localization of kidney, Abnormal mitral valve morphology, Abnormal nasal bone morphology, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormal speech pattern, Abnormal visual field test, Absent eyebrow, Absent eyelashes, Alveolar cell carcinoma, Anterior creases of earlobe, Anteverted nares, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the eyebrow, Aplasia of the semicircular canal, Arrhythmia, Atopic dermatitis, Atrial septal defect, Atrioventricular canal defect, Atypical behavior, Biparietal narrowing, Bitemporal hemianopia, Brachycephaly, Brachydactyly, Brittle hair, Bulbous nose, Bundle branch block, Cavernous hemangioma, Central adrenal insufficiency, Central diabetes insipidus, Cerebral calcification, Cerebral cortical atrophy, Cerebral ischemia, Clinodactyly of the 5th finger, Coarse facial features, Coarse hair, Cognitive impairment, Coma, Constipation, Cryptorchidism, Cubitus valgus, Curly hair, Cystic hygroma, Decreased fertility, Deep palmar crease, Deep philtrum, Delayed puberty, Delayed skeletal maturation, Dental malocclusion, Depressed nasal bridge, Dolichocephaly, Downslanted palpebral fissures, Dry skin, Dysarthria, Dysphagia, Dystrophic fingernails, EEG abnormality, Enlarged pituitary gland, Enlarged thorax, Epicanthus, Excessive daytime somnolence, Excessive wrinkled skin, Failure to thrive, Failure to thrive in infancy, Feeding difficulties in infancy, Fine hair, Freckling, Frontal bossing, Full cheeks, Functional abnormality of the gastrointestinal tract, Gastroesophageal reflux, Generalized hyperpigmentation, Generalized hypotonia, Genu valgum, Global developmental delay, Growth delay, Headache, Hearing impairment, Hepatomegaly, High forehead, High palate, Hydrocephalus, Hydronephrosis, Hyperextensibility of the finger joints, Hyperextensible skin, Hyperhidrosis, Hyperkeratosis, Hyperpigmentation of the skin, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadism, Hypogonadotropic hypogonadism, Hypopituitarism, Hypoplasia of the frontal lobes, Hypoplasia of the zygomatic bone, Hypospadias, Hypotonia, Ichthyosis, Impaired oropharyngeal swallow response, Increased circulating prolactin concentration, Increased intracranial pressure, Increased susceptibility to fractures, Intellectual disability, Intellectual disability, mild, Intracranial cystic lesion, Intrauterine growth retardation, Joint hypermobility, Keratosis pilaris, Large earlobe, Large for gestational age, Lentigo maligna melanoma, Long face, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Lymphedema, Macrocephaly, Macrotia, Melanocytic nevus, Melanoma, Micrognathia, Midface retrusion, Mitral valve prolapse, Multiple cafe-au-lait spots, Multiple lentigines, Multiple palmar creases, Multiple plantar creases, Muscle weakness, Myelodysplasia, Myocardial infarction, Myopia, Narrow forehead, Nasogastric tube feeding in infancy, Nausea and vomiting, Neonatal hypotonia, Neoplasm of the anterior pituitary, Neuroblastoma, Numerous nevi, Nystagmus, Obesity, obsolete Abnormality of the ulna, obsolete Joint hyperflexibility, obsolete Low-set, posteriorly rotated ears, Oculomotor apraxia, Open bite, Open mouth, Optic atrophy, Optic nerve dysplasia, Osteopenia, Palmoplantar keratoderma, Palpebral thickening, Papilledema, Pectus carinatum, Pectus excavatum, Peripheral axonal neuropathy, Pituitary hypothyroidism, Polyhydramnios, Polyphagia, Poor suck, Posteriorly rotated ears, Premature birth, Progressive visual field defects, Progressive visual loss, Prominent forehead, Proportionate short stature, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Radioulnar synostosis, Recurrent infections, Redundant skin, Relative macrocephaly, Scapular winging, Scoliosis, Seizure, Sensorineural hearing impairment, Severe sensorineural hearing impairment, Shield chest, Short neck, Short nose, Short stature, Sleep abnormality, Sleep apnea, Slow decrease in visual acuity, Slow-growing hair, Sparse hair, Sparse or absent eyelashes, Spasticity, Spina bifida occulta, Splenomegaly, Sprengel anomaly, Strabismus, Subcutaneous nodule, Submucous cleft hard palate, Sudden loss of visual acuity, Tetralogy of Fallot, Thickened helices, Thickened nuchal skin fold, Thick lower lip vermilion, Thick vermilion border, Tongue thrusting, Triangular face, Type II diabetes mellitus, Underdeveloped supraorbital ridges, Vascular dilatation, Vertigo, Vomiting, Webbed neck, Wide intermamillary distance, Wide nasal bridge

abnormal cerebellum vermis lobule II morphology, abnormal cerebellum vermis lobule I morphology, abnormal cerebellum vermis lobule morphology, abnormal cerebellum vermis lobule VII morphology, abnormal cerebellum vermis lobule V morphology, abnormal cerebellum vermis lobule X morphology, abnormal cerebral cortex pyramidal cell morphology, abnormal coronary artery morphology, abnormal crypts of Lieberkuhn morphology, abnormal dermal melanocyte morphology, abnormal dorsal root ganglion morphology, abnormal epicardium morphology, abnormal frontal bone morphology, abnormal growth hormone level, abnormal heart development, abnormal hippocampus granule cell layer, abnormal innervation, abnormal intestinal epithelium morphology, abnormal intestinal mucosa morphology, abnormal kidney morphology, abnormal large intestine crypts of Lieberkuhn morphology, abnormal locomotor behavior, abnormal long term object recognition memory, abnormal lymph organ development, abnormal mating frequency, abnormal melanocyte morphology, abnormal myocardial fiber morphology, abnormal myometrium morphology, abnormal neurocranium morphology, abnormal neuronal precursor proliferation, abnormal neuron physiology, abnormal pancreatic acinar cell morphology, abnormal placenta labyrinth morphology, abnormal placental labyrinth vasculature morphology, abnormal placenta morphology, abnormal pulmonary valve cusp morphology, abnormal Purkinje cell dendrite morphology, abnormal Purkinje cell morphology, abnormal skin sebaceous gland morphology, abnormal somatosensory cortex morphology, abnormal spatial learning, abnormal spongiotrophoblast layer morphology, abnormal stratification in cerebral cortex, abnormal telencephalon development, abnormal thymus morphology, abnormal thyroid follicle morphology, abnormal trophoblast layer morphology, abnormal vascular endothelial cell morphology, abnormal visual cortex morphology, abnormal vitelline vasculature morphology, behavior/neurological phenotype, branched small intestinal villi, cardiac hypertrophy, cellular phenotype, convulsive seizures, cytokine storm, decreased birth weight, decreased body size, decreased bone marrow cell number, decreased brain weight, decreased circulating thyroxine level, decreased cranium length, decreased embryo size, decreased embryo weight, decreased erythrocyte cell number, decreased food intake, decreased liver weight, decreased Purkinje cell number, decreased spleen weight, decreased thymocyte number, decreased thymus weight, decreased vertical activity, decreased white adipose tissue amount, embryonic growth retardation, embryonic lethality between implantation and somite formation, complete penetrance, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, enhanced behavioral response to xenobiotic, enlarged lymph nodes, enlarged mitral valve, enlarged myocardial fiber, enlarged pulmonary valve, enlarged tricuspid valve, excessive scratching, granulomatous inflammation, heart hyperplasia, hematoma, hyperpigmentation, impaired balance, impaired contextual conditioning behavior, impaired neuron differentiation, increased aggression, increased apoptosis, increased cardiac muscle contractility, increased cell proliferation, increased circulating noradrenaline level, increased circulating thyroid-stimulating hormone level, increased dendritic cell number, increased fibroblast proliferation, increased gastrointestinal tumor incidence, increased gland tumor incidence, increased heart weight, increased intestinal adenoma incidence, increased large intestine length, increased lung adenoma incidence, increased lung tumor incidence, increased melanoma incidence, increased metastatic potential, increased neuronal precursor proliferation, increased neuron apoptosis, increased skin papilloma incidence, increased skin tumor incidence, increased small intestine length, increased spleen weight, increased splenocyte apoptosis, increased susceptibility to ischemic brain injury, increased thymocyte apoptosis, increased thyroid carcinoma incidence, increased thyroid tumor incidence, increased vascular endothelial cell number, lethality at weaning, complete penetrance, lethality at weaning, incomplete penetrance, lethality throughout fetal growth and development, incomplete penetrance, long incisors, long nails, lung epithelium hyperplasia, lymphoid hyperplasia, mandible hypoplasia, neonatal lethality, complete penetrance, nervous system phenotype, no abnormal phenotype detected, pigmentation phenotype, poor circulation, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, pulmonary alveolar hemorrhage, reduced long term potentiation, respiratory system phenotype, round head, ruffled hair, skin lesions, slow postnatal weight gain, small adenohypophysis, small liver, thick interventricular septum, thick mitral valve cusps, thick pulmonary valve, thick pulmonary valve cusps, thick tricuspid valve, thick ventricular wall, thin cerebral cortex, thin myocardium compact layer, thymus atrophy