Abnormality of epiphysis morphology, Abnormality of femur morphology, Abnormality of malar bones, Abnormality of the abdominal wall, Abnormality of the musculature, Abnormality of the skin, Adducted thumb, Amblyopia, Anteverted nares, Aortic aneurysm, Aortic dissection, Aortic regurgitation, Aortic root aneurysm, Aortic tortuosity, Aortic valve stenosis, Aplasia/Hypoplasia of the skin, Arachnodactyly, Arterial dissection, Arthralgia/arthritis, Ascending aortic dissection, Ascending tubular aorta aneurysm, Attention deficit hyperactivity disorder, Bicuspid aortic valve, Blindness, Blue sclerae, Brachycephaly, Brachydactyly, Broad metacarpals, Broad metatarsal, Broad palm, Broad phalanges of the hand, Broad ribs, Broad skull, Bruising susceptibility, Bulbous nose, Cachexia, Cardiomegaly, Carotid artery dilatation, Cataract, Chest pain, Chronic fatigue, Cleft palate, Cognitive impairment, Cone-shaped epiphysis, Congestive heart failure, Coronary artery atherosclerosis, Craniosynostosis, Crumpled ear, Cutis laxa, Cutis marmorata, Decreased muscle mass, Decreased nerve conduction velocity, Decreased testicular size, Deep philtrum, Deeply set eye, Delayed skeletal maturation, Dental crowding, Depressed nasal bridge, Descending aortic dissection, Descending thoracic aorta aneurysm, Dilatation of an abdominal artery, Dilatation of the cerebral artery, Disproportionate tall stature, Dolichocephaly, Downslanted palpebral fissures, Dural ectasia, Ectopia lentis, Ectopia pupillae, Emphysema, Enlarged thorax, Esotropia, Exertional dyspnea, Exotropia, Feeding difficulties, Fifth metacarpal with ulnar notch, Flat cornea, Flexion contracture, Full cheeks, Genu recurvatum, Glaucoma, Hammertoe, Heart murmur, Hemoptysis, Hepatomegaly, High myopia, High palate, High, narrow palate, Hoarse voice, Hydrocephalus, Hyperextensibility of the finger joints, Hypertelorism, Hypertension, Hypertropia, Hypoplasia of the iris, Hypoplasia of the maxilla, Hyporeflexia, Hypotonia, Hypovolemia, Hypoxemia, Impaired pain sensation, Incisional hernia, Increased arm span, Increased axial length of the globe, Intellectual disability, mild, Intrauterine growth retardation, Iridodonesis, Ischemic stroke, Joint hypermobility, Joint stiffness, Kyphoscoliosis, Kyphosis, Lack of skin elasticity, Lens luxation, Lens subluxation, Limitation of joint mobility, Limited elbow movement, Lipoatrophy, Lipodystrophy, Long eyelashes, Long face, Long philtrum, Long toe, Low-set ears, Lumbar hyperlordosis, Macrocephaly, Malar flattening, Mandibular prognathia, Medial rotation of the medial malleolus, Megalocornea, Meningocele, Micrognathia, Microspherophakia, Midface retrusion, Mitral annular calcification, Mitral regurgitation, Mitral stenosis, Mitral valve calcification, Mitral valve prolapse, Motor delay, Mucoid extracellular matrix accumulation, Muscle weakness, Myalgia, Myopia, Narrow face, Narrow mouth, Narrow nose, Narrow palate, Neonatal respiratory distress, Nephrolithiasis, Nystagmus, Oligohydramnios, Open bite, Osteopenia, Osteoporosis, Ovoid vertebral bodies, Paroxysmal dyspnea, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Peripheral arterial stenosis, Peripheral neuropathy, Pes cavus, Pes planus, Pes valgus, Pneumothorax, Premature birth, Premature osteoarthritis, Prenatal maternal abnormality, Prominent forehead, Prominent nasal bridge, Proportionate short stature, Proptosis, Protrusio acetabuli, Pulmonary arterial hypertension, Pulmonary artery dilatation, Pulmonic stenosis, Reduced subcutaneous adipose tissue, Respiratory insufficiency, Retinal detachment, Retrognathia, Round face, Scaphocephaly, Scoliosis, Sensorineural hearing impairment, Severe short stature, Shallow anterior chamber, Shallow orbits, Short foot, Short long bone, Short metacarpal, Short nose, Short palm, Short phalanx of finger, Short stature, Short thumb, Skeletal muscle atrophy, Sleep disturbance, Slender build, Small for gestational age, Small hand, Smooth philtrum, Spinal canal stenosis, Spondylolisthesis, Spontaneous pneumothorax, Stiff skin, Strabismus, Striae distensae, Stroke, Subarachnoid hemorrhage, Subcutaneous nodule, Talipes calcaneovarus, Tall stature, Thick lower lip vermilion, Thickened skin, Thin bony cortex, Thin upper lip vermilion, Tooth malposition, Transient ischemic attack, Tricuspid regurgitation, Tricuspid stenosis, Tricuspid valve prolapse, Type II diabetes mellitus, Ventricular septal defect, Visual impairment, Visual loss, Wide nasal bridge, obsolete Abnormal echocardiogram, obsolete Toe walking

abnormal bone marrow cell morphology/development, abnormal bone remodeling, abnormal bronchiole morphology, abnormal costal cartilage morphology, abnormal cutaneous collagen fibril morphology, abnormal cutaneous microfibril morphology, abnormal dermal layer morphology, abnormal dermis papillary layer morphology, abnormal dermis reticular layer collagen network, abnormal dermis reticular layer morphology, abnormal diaphragm morphology, abnormal hypodermis morphology, abnormal intercostal muscle morphology, abnormal lung development, abnormal lung vasculature morphology, abnormal mitral valve morphology, abnormal neuron physiology, abnormal postnatal growth/weight/body size, abnormal pulmonary alveolus morphology, abnormal pulmonary alveolus wall morphology, abnormal pulmonary interalveolar septum morphology, abnormal pulmonary neuroendocrine body morphology, abnormal respiratory bronchiole morphology, abnormal skin condition, abnormal skin tensile strength, abnormal skin turgor, abnormal tendon sheath morphology, abnormal tracheal cartilage morphology, abnormal uterine NK cell morphology, alveolitis, aortic elastic tissue lesions, aortitis, cardiac fibrosis, cardiac hypertrophy, cardiovascular system phenotype, decreased body fat mass, decreased bone mass, decreased bone trabecula number, decreased bone volume, decreased energy expenditure, decreased food intake, decreased lean body mass, decreased susceptibility to diet-induced obesity, decreased trabecular bone thickness, dilated heart atrium, dilated pulmonary alveolar duct, 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, enlarged cranium, enlarged lumbar vertebrae, enlarged thoracic cavity, homeostasis/metabolism phenotype, hunched posture, impaired lung alveolus development, increased anti-nuclear antigen antibody level, increased aorta wall thickness, increased autoantibody level, increased interleukin-13 secretion, increased interleukin-9 secretion, increased length of long bones, increased lung compliance, increased number of pulmonary neuroendocrine bodies, increased plasma cell number, increased solitary pulmonary neuroendocrine cell number, increased susceptibility to type IV hypersensitivity reaction, increased total lung capacity, integument phenotype, long mandible, long ribs, lung hemorrhage, overexpanded pulmonary alveoli, postnatal lethality, complete penetrance, premature death, short radius, skin fibrosis, thick dermal layer, thick hypodermis, thick pulmonary interalveolar septum, thick skin