Ascending aortic dissection, Bicuspid aortic valve, Bifid uvula, Broad uvula, Bruising susceptibility, Cardiomegaly, Carotid artery dilatation, Chest pain, Chronic pain, Coronary artery atherosclerosis, Cutis marmorata, Descending aortic dissection, Descending thoracic aorta aneurysm, Dilatation of the cerebral artery, Downslanted palpebral fissures, Dural ectasia, Emphysema, Eosinophilic infiltration of the esophagus, Exertional dyspnea, Hemoptysis, High palate, High, narrow palate, Hyperextensible skin, Hypertelorism, Hypertension, Hypovolemia, Ischemic stroke, Mitral valve prolapse, Mucoid extracellular matrix accumulation, Paroxysmal dyspnea, Patent ductus arteriosus, Peripheral arterial stenosis, Pes planus, Pneumothorax, Prenatal maternal abnormality, Ptosis, Retrognathia, Scoliosis, Spondylolisthesis, Striae distensae, Stroke, Subarachnoid hemorrhage, Talipes equinovarus, Tall stature, Torticollis, Transient ischemic attack, obsolete Joint hyperflexibility

abnormal cochlear ganglion morphology, abnormal cornea posterior stroma morphology, abnormal corneal stroma morphology, abnormal craniofacial bone morphology, abnormal enterocyte apoptosis, abnormal eye posterior chamber morphology, abnormal heart ventricle outflow tract morphology, abnormal humerus morphology, abnormal iris stroma morphology, abnormal kidney morphology, abnormal limb morphology, abnormal macrophage physiology, abnormal mandible morphology, abnormal myocardium layer morphology, abnormal neurocranium morphology, abnormal renal tubule epithelium morphology, abnormal retina neuronal layer morphology, abnormal scala vestibuli morphology, abnormal semilunar valve morphology, abnormal sternum morphology, abnormal thoracic cage shape, abnormal trochanter morphology, abnormal truncus arteriosus septation, abnormal uterine horn morphology, abnormal xiphoid process morphology, absent Descemet membrane, absent Rosenthal canal, absent alisphenoid bone, absent corneal endothelium, absent deltoid tuberosity, absent eye anterior chamber, absent interdental cells, absent mandibular angle, absent maxillary shelf, absent occipital bone, absent pterygoid process, absent spiral limbus, ascending aorta hypoplasia, atrioventricular septal defect, bulbourethral gland cyst, bulbourethral gland hyperplasia, decreased corneal stroma thickness, decreased dopamine level, decreased dopaminergic neuron number, dilated renal tubules, dilated respiratory conducting tube, failure of atrioventricular cushion closure, failure of heart looping, failure of palatal shelf elevation, fused cornea and lens, heart valve hyperplasia, limbs/digits/tail phenotype, neonatal lethality, complete penetrance, patent aortic valve, patent pulmonary valve, perinatal lethality, incomplete penetrance, persistence of hyaloid vascular system, persistent right dorsal aorta, primary vitreous hyperplasia, prostate gland anterior lobe hyperplasia, retina hyperplasia, short mandible, short radius, small frontal bone, small interparietal bone, small mandibular condyloid process, small mandibular coronoid process, small olecranon, small parietal bone, small temporal bone, testis hypoplasia, thick aortic valve cusps, thick mitral valve, thick pulmonary valve cusps, thick tricuspid valve, trabecula carnea hypoplasia, vitreous body deposition