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, Bruising susceptibility, Camptodactyly, Camptodactyly of finger, Cardiac arrest, Cardiomegaly, Carotid artery dilatation, Chest pain, Chiari malformation, Cleft palate, Coronary artery atherosclerosis, Cough, 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, High, narrow palate, High 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, Myopia, Neoplasm, obsolete Joint hyperflexibility, obsolete Joint laxity, Orofacial cleft, Paroxysmal dyspnea, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Peripheral arterial stenosis, Pes planus, Pneumothorax, Postaxial hand polydactyly, Pregnancy history, Proptosis, Pulmonary artery aneurysm, Retrognathia, Scoliosis, Soft skin, Striae distensae, Stroke, Subarachnoid hemorrhage, Talipes equinovarus, Tall stature, Thin skin, Transient ischemic attack, Uterine rupture, Vascular dilatation

abnormal kidney arterial blood vessel morphology, abnormal lung development, abnormal lung vasculature morphology, abnormal placenta labyrinth morphology, abnormal pulmonary alveolus morphology, abnormal skin condition, abnormal skin development, abnormal synovial joint morphology, abnormal T cell activation, abnormal type IV hypersensitivity reaction, abnormal vascular smooth muscle morphology, abnormal visceral yolk sac morphology, abnormal vitelline vascular remodeling, abnormal vitelline vasculature morphology, absent vitelline blood vessels, ascending aorta aneurysm, cardiovascular system phenotype, decreased cardiac muscle contractility, decreased club cell number, decreased dendritic cell number, decreased embryo size, dilated respiratory conducting tube, embryonic growth retardation, embryonic lethality, complete penetrance, embryonic lethality during organogenesis, complete penetrance, enhanced wound healing, excessive folding of visceral yolk sac, hematopoietic system phenotype, increased aorta wall thickness, increased chondrocyte apoptosis, increased hematopoietic stem cell proliferation, kinked neural tube, neonatal lethality, complete penetrance, no abnormal phenotype detected, osteophytes, premature death, prenatal lethality, complete penetrance, preweaning lethality, complete penetrance, small lung, thick dermal layer, thick skin, thin epidermis, vascular smooth muscle hypertrophy