Aortic root aneurysm, Arachnodactyly, Arterial dissection, Arterial tortuosity, Ascending aortic dissection, Ascending tubular aorta aneurysm, Atrial septal defect, Atypical scarring of skin, Bicuspid aortic valve, Bicuspid pulmonary valve, Bifid uvula, Blue sclerae, Brachydactyly, Bruising susceptibility, Camptodactyly, Camptodactyly of finger, Cardiac arrest, Cardiomegaly, Carotid artery dilatation, Chest pain, Chiari malformation, Cleft palate, Cognitive impairment, Coronary artery atherosclerosis, Craniosynostosis, Cutis marmorata, Dermal translucency, Descending aortic dissection, Descending thoracic aorta aneurysm, Dilatation of the cerebral artery, Disproportionate tall stature, Dural ectasia, Eosinophilic infiltration of the esophagus, Exertional dyspnea, Exotropia, Generalized arterial tortuosity, Global developmental delay, Hemoptysis, Hereditary nonpolyposis colorectal carcinoma, High palate, High, narrow palate, Hydrocephalus, Hypertelorism, Hypertension, Hypovolemia, Intellectual disability, Ischemic stroke, Joint contracture of the hand, Joint dislocation, Malar flattening, Micrognathia, Mitral valve prolapse, Mucoid extracellular matrix accumulation, Neoplasm, Orofacial cleft, Osteoporosis, Paroxysmal dyspnea, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Peripheral arterial stenosis, Pes planus, Pneumothorax, Polydactyly, Postaxial polydactyly, Prenatal maternal abnormality, Proptosis, Protrusio acetabuli, Pulmonary artery aneurysm, Retrognathia, Scoliosis, Spondylolisthesis, Spontaneous pneumothorax, Squamous cell carcinoma, Striae distensae, Stroke, Subarachnoid hemorrhage, Syndactyly, Talipes equinovarus, Tall stature, Thin skin, Transient ischemic attack, Umbilical hernia, Uterine rupture, Vascular dilatation, obsolete Joint hyperflexibility, obsolete Joint laxity

abnormal bronchial cartilage morphology, abnormal bronchus morphology, abnormal coronary artery morphology, abnormal craniofacial bone morphology, abnormal cranium morphology, abnormal dorsal aorta morphology, abnormal electroretinogram waveform feature, abnormal embryonic hematopoiesis, abnormal enamel mineralization, abnormal erythropoiesis, abnormal fat pad morphology, abnormal fourth pharyngeal arch artery morphology, abnormal hair follicle melanocyte morphology, abnormal kidney morphology, abnormal lung lobe morphology, abnormal mandible morphology, abnormal nasal septum morphology, abnormal neural crest cell morphology, abnormal neurocranium morphology, abnormal palatal shelf fusion at midline, abnormal palate development, abnormal palate morphology, abnormal pancreas development, abnormal pericyte morphology, abnormal primary palate development, abnormal retina blood vessel morphology, abnormal retina layer morphology, abnormal retina neuronal layer morphology, abnormal retina vasculature morphology, abnormal secondary palate development, abnormal soft palate muscle morphology, abnormal tooth attrition, abnormal tracheal cartilage morphology, abnormal vasodilation, abnormal vitelline vasculature morphology, absent frontal bone, absent gastric milk in neonates, absent mandibular angle, absent parathyroid glands, absent plasma cells, absent vitelline blood vessels, ascending aorta aneurysm, autoimmune response, blood vessel congestion, cardiovascular system phenotype, decreased Langerhans cell number, decreased a-wave amplitude, decreased b-wave amplitude, decreased cardiac muscle contractility, decreased circulating alanine transaminase level, decreased cranial neural crest cell proliferation, decreased embryo size, decreased retina ganglion cell number, decreased tracheal cartilage ring number, dilated respiratory conducting tube, ectopic hair follicle melanin granules, ectopic melanocytes, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, enlarged Peyer's patches, enlarged lymph nodes, enlarged pericardium, eye inflammation, growth/size/body region phenotype, hypoxia, immune system phenotype, increased T cell derived lymphoma incidence, increased T cell proliferation, increased aorta wall thickness, increased fatty acids level, increased hepatocyte proliferation, increased incidence of tumors by chemical induction, increased memory T cell number, increased prostate gland adenocarcinoma incidence, increased prostate intraepithelial neoplasia incidence, increased regulatory T cell number, increased retina apoptosis, increased total body fat amount, lethality throughout fetal growth and development, complete penetrance, microgliosis, no abnormal phenotype detected, palatal shelf hypoplasia, palatal shelves fail to meet at midline, pale yolk sac, persistence of hyaloid vascular system, pigment incontinence, postnatal lethality, complete penetrance, premature death, prenatal lethality, complete penetrance, preweaning lethality, complete penetrance, reduced enamel thickness, retina microaneurysm, retroesophageal right subclavian artery, small cranium, small levator veli palatini muscle, small liver, small mandible, small mandibular condyloid process, small mandibular coronoid process, small maxilla, small tensor veli palatini muscle, small thymus, thin retina outer nuclear layer, vitreous body hemorrhage