Abnormality of coagulation, Abnormality of epiphysis morphology, Abnormality of the face, Abnormality of the genital system, Abnormality of the lymphatic system, Abnormality of the metaphysis, Abnormality of the pulmonary artery, Abnormality of the spleen, Abnormality of the vertebral column, Abnormality of the voice, Amegakaryocytic thrombocytopenia, Aplasia of the ovary, Aplasia of the semicircular canal, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Atrial septal defect, Atrioventricular canal defect, Avascular necrosis, Bone pain, Bowing of the long bones, Brachycephaly, Brachydactyly, Bundle branch block, Cafe-au-lait spot, Cleft palate, Clinodactyly, Clinodactyly of the 5th finger, Coarctation of aorta, Coarse hair, Cranial nerve paralysis, Cryptorchidism, Cubitus valgus, Cystic hygroma, Decreased fertility, Delayed menarche, Delayed puberty, Delayed skeletal maturation, Dental malocclusion, Depressed nasal ridge, Downslanted palpebral fissures, Dysarthria, Enlarged thorax, Epicanthus, Excessive wrinkled skin, Exostoses, Failure to thrive, Failure to thrive in infancy, Feeding difficulties in infancy, Freckling, Global developmental delay, Growth delay, Hepatomegaly, High forehead, High palate, High, narrow palate, Hyperextensible skin, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Hyposmia, Hypospadias, Hypotonia, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Juvenile myelomonocytic leukemia, Kyphoscoliosis, Limited elbow movement, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Lymphedema, Male infertility, Mandibular prognathia, Melanocytic nevus, Melanoma, Micrognathia, Micropenis, Midface retrusion, Missing ribs, Mitral valve prolapse, Multiple digital exostoses, Multiple enchondromatosis, Multiple lentigines, Muscle weakness, Myelodysplasia, Myocardial infarction, Myopia, Neoplasm, Neuroblastoma, Neurofibrosarcoma, Neurological speech impairment, Nystagmus, Parietal bossing, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pectus excavatum of inferior sternum, Posteriorly rotated ears, Proptosis, Protruding ear, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Radial deviation of finger, Radioulnar synostosis, Reduced factor XII activity, Reduced factor XIII activity, Scapular winging, Scoliosis, Sensorineural hearing impairment, Severe sensorineural hearing impairment, Shield chest, Short neck, Short stature, Spina bifida occulta, Sprengel anomaly, Strabismus, Subcutaneous nodule, Subvalvular aortic stenosis, Superior pectus carinatum, Synovitis, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Third degree atrioventricular block, Triangular face, Unilateral renal agenesis, Vascular dilatation, Ventricular septal defect, Webbed neck, Wide intermamillary distance, Wide nasal bridge, obsolete Joint hyperflexibility

abnormal carbohydrate metabolism, abnormal cardiac epithelial to mesenchymal transition, abnormal cell death, abnormal chest morphology, abnormal common myeloid progenitor cell morphology, abnormal cone electrophysiology, abnormal craniofacial development, abnormal craniofacial morphology, abnormal definitive hematopoiesis, abnormal embryonic neuroepithelium morphology, abnormal endoderm development, abnormal epididymal fat pad morphology, abnormal erythropoiesis, abnormal eye distance/ position, abnormal fat cell differentiation, abnormal fetal cardiomyocyte morphology, abnormal gastrulation, abnormal heart development, abnormal heart echocardiography feature, abnormal heart tube morphology, abnormal hematopoietic stem cell physiology, abnormal hepatocyte morphology, abnormal hippocampus neuron morphology, abnormal interventricular groove morphology, abnormal lacrimal gland development, abnormal leukopoiesis, abnormal lipid level, abnormal liver sinusoid morphology, abnormal mandible morphology, abnormal melanocyte morphology, abnormal myocardial fiber calcium currents, abnormal myocardial fiber morphology, abnormal myocardial fiber physiology, abnormal nasal bone morphology, abnormal nasal capsule morphology, abnormal nasopharynx morphology, abnormal notochord morphology, abnormal organ of Corti morphology, abnormal retina inner nuclear layer morphology, abnormal rod electrophysiology, abnormal rostral-caudal axis patterning, abnormal sensory neuron innervation pattern, abnormal spatial learning, abnormal splenic cell ratio, abnormal trophectoderm morphology, abnormal visceral yolk sac morphology, abnormal vitelline vascular remodeling, absent Schwann cell precursors, absent craniofacial bones, absent mandible, absent nasal capsule, aneuploidy, arrested B cell differentiation, atrioventricular septal defect, broad snout, cardiac fibrosis, cardiac hypertrophy, cardiac interstitial fibrosis, cardiovascular system phenotype, caudal body truncation, chromosomal instability, common truncal valve, decreased Schwann cell number, decreased Schwann cell precursor number, decreased a-wave amplitude, decreased b-wave amplitude, decreased body length, decreased body size, decreased bone marrow cell number, decreased brown adipose tissue amount, decreased cardiac cell glucose uptake, decreased cardiac muscle contractility, decreased cardiac stroke volume, decreased cardiomyocyte apoptosis, decreased cell proliferation, decreased circulating adiponectin level, decreased circulating alanine transaminase level, decreased circulating glucose level, decreased circulating thyroxine level, decreased common myeloid progenitor cell number, decreased cranium height, decreased cranium length, decreased enteric neural crest cell number, decreased exploration in new environment, decreased fetal size, decreased granulocyte monocyte progenitor cell number, decreased hematopoietic stem cell number, decreased litter size, decreased liver triglyceride level, decreased motor neuron number, decreased muscle cell glucose uptake, decreased retina inner nuclear layer thickness, decreased sensory neuron number, decreased skeletal muscle fiber number, decreased skeletal muscle fiber size, decreased survivor rate, decreased susceptibility to diet-induced obesity, decreased systemic arterial blood pressure, decreased triglyceride level, decreased trophectoderm cell proliferation, decreased ventricle muscle contractility, decreased white fat cell number, dilated heart atrium, dilated heart left ventricle, dilated heart ventricle, disorganized embryonic tissue, ectopic cartilage, embryonic growth arrest, embryonic growth retardation, embryonic lethality, embryonic lethality at implantation, incomplete penetrance, embryonic lethality between implantation and somite formation, complete penetrance, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, embryonic lethality, complete penetrance, enhanced lipolysis, enlarged heart atrium, enlarged mitral valve, enlarged myocardial fiber, failure of initiation of embryo turning, flattened snout, focal hepatic necrosis, heart valve hyperplasia, hematopoietic system phenotype, hypersecretion of corticosterone, immune system phenotype, impaired cued conditioning behavior, impaired embryo implantation, improved glucose tolerance, incomplete somite formation, increased B cell derived lymphoma incidence, increased acute inflammation, increased acute lymphoblastic leukemia incidence, increased adipocyte glucose uptake, increased atrioventricular cushion size, increased body length, increased brown adipose tissue amount, increased cardiac muscle contractility, increased cell proliferation, increased circulating alanine transaminase level, increased circulating aspartate transaminase level, increased circulating growth hormone level, increased circulating interleukin-6 level, increased circulating thyroid-stimulating hormone level, increased energy expenditure, increased glycerol level, increased granulocyte number, increased heart ventricle size, increased heart weight, increased hematopoietic stem cell number, increased hepatocyte proliferation, increased incidence of tumors by chemical induction, increased insulin sensitivity, increased lean body mass, increased liver adenoma incidence, increased liver triglyceride level, increased lung weight, increased lymphoblastic lymphoma incidence, increased neutrophil cell number, increased spleen weight, increased susceptibility to weight gain, increased triglyceride level, increased white adipose tissue amount, inner cell mass degeneration, intermingled spleen red and white pulp, kinked neural tube, lethality throughout fetal growth and development, complete penetrance, liver hyperplasia, myeloid hyperplasia, no abnormal phenotype detected, open neural tube, perinatal lethality, incomplete penetrance, polyploidy, premature death, preweaning lethality, complete penetrance, reduced female fertility, retina ganglion cell degeneration, retina outer nuclear layer degeneration, slow postnatal weight gain, small cranium, small liver, small snout, thick interventricular septum, thick ventricular wall, thin myocardium, thin myocardium compact layer, thin retina ganglion layer, thin retina inner plexiform layer, thin retina outer nuclear layer, thin ventricular wall, ventricular cardiomyopathy