Abnormality of the skeletal system, Abnormality of the vasculature, Absence of pubertal development, Absence of subcutaneous fat, Absent eyelashes, Acanthosis nigricans, Acroosteolysis of distal phalanges (feet), Adrenal hypoplasia, Aminoaciduria, Angina pectoris, Ankylosis, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Aplastic clavicle, Arteriosclerosis of small cerebral arteries, Arthrogryposis multiplex congenita, Ascending tubular aorta aneurysm, Atrial septal defect, Bilateral coxa valga, Bird-like facies, Blepharophimosis, Brittle hair, Broad-based gait, Calcinosis, Camptodactyly of finger, Carotid artery stenosis, Choanal atresia, Congenital adrenal hypoplasia, Congenital pseudoarthrosis of the clavicle, Congestive heart failure, Convex nasal ridge, Craniofacial disproportion, Cyanosis, Decreased adipose tissue around neck, Decreased body weight, Decreased calvarial ossification, Decreased fetal movement, Decreased serum estradiol, Decreased serum testosterone concentration, Decreased skull ossification, Delayed cranial suture closure, Delayed eruption of teeth, Delayed puberty, Dental crowding, Dermal atrophy, Dermal translucency, Dextrocardia, Downslanted palpebral fissures, Entropion, Failure to thrive, Flexion contracture, Generalized hyperkeratosis, Generalized lipodystrophy, Generalized osteoporosis, Glucose intolerance, Growth delay, Hepatic steatosis, High palate, High pitched voice, Hip dislocation, Hydropic placenta, Hyperglycemia, Hyperinsulinemia, Hyperkeratosis, Hyperlipidemia, Hypermetropia, Hyperphosphatemia, Hyperpigmentation of the skin, Hypertelorism, Hypertension, Hypertriglyceridemia, Hypodontia, Hypogonadotropic hypogonadism, Hypohidrosis, Hypoplasia of teeth, Hypoplastic facial bones, Hypoplastic nipples, Hypospadias, Increased anterioposterior diameter of thorax, Infertility, Insulin resistance, Insulin-resistant diabetes mellitus, Insulin-resistant diabetes mellitus at puberty, Intermittent claudication, Intrauterine growth retardation, Joint stiffness, Keratoconjunctivitis sicca, Kyphoscoliosis, Kyphosis, Lack of skin elasticity, Large fontanelles, Large placenta, Left ventricular hypertrophy, Lipoatrophy, Loss of facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Loss of truncal subcutaneous adipose tissue, Low-set ears, Macrotia, Malar flattening, Metaphyseal widening, Microcolon, Micrognathia, Midface retrusion, Mottled pigmentation, Multiple joint contractures, Myocardial infarction, Nail dysplasia, Nail dystrophy, Narrow mouth, Narrow nasal ridge, Narrow nasal tip, Nasal speech, Natal tooth, Osteoarthritis, Osteolysis, Osteolytic defects of the distal phalanges of the hand, Osteopenia, Osteoporosis, Overtubulated long bones, Ovoid vertebral bodies, Patent ductus arteriosus, Polyhydramnios, Precocious atherosclerosis, Premature birth, Premature coronary artery atherosclerosis, Premature delivery because of cervical insufficiency or membrane fragility, Premature graying of hair, Premature loss of teeth, Premature rupture of membranes, Prematurely aged appearance, Progeroid facial appearance, Progressive clavicular acroosteolysis, Prolonged QT interval, Prolonged prothrombin time, Prominent forehead, Prominent scalp veins, Prominent superficial blood vessels, Proptosis, Pulmonary hypoplasia, Regional abnormality of skin, Reticulated skin pigmentation, Rocker bottom foot, Scaling skin, Sensorineural hearing impairment, Short clavicles, Short distal phalanx of finger, Short nail, Short nose, Short palpebral fissure, Short phalanx of finger, Short stature, Short umbilical cord, Sinus tachycardia, Skin erosion, Small placenta, Sparse eyebrow, Sparse eyelashes, Sparse hair, Sparse or absent eyelashes, Stiff skin, Stroke, Structural foot deformity, Submucous cleft hard palate, Tapering pointed ends of distal finger phalanges, Telecanthus, Temporomandibular joint ankylosis, Thin bony cortex, Thin clavicles, Thin nail, Thin ribs, Thin skin, Thin vermilion border, Thoracic kyphoscoliosis, Thrombocytosis, Transient ischemic attack, Transposition of the great arteries, Ureteral duplication, Webbed neck, Widely patent fontanelles and sutures, Wormian bones, obsolete Hypotrichosis, obsolete Sparse and thin eyebrow

abnormal thoracic vertebrae morphology, abnormal thymus corticomedullary boundary morphology, abnormal zygomatic arch morphology, abnormal zygomatic bone morphology, aphagia, cardiac interstitial fibrosis, cardiovascular system phenotype, decreased body size, decreased circulating glucose level, decreased circulating insulin-like growth factor I level, decreased grip strength, decreased survivor rate, dilated heart left ventricle, epidermal atrophy, extended life span, hunched posture, increased circulating aspartate transaminase level, increased circulating glutamate dehydrogenase level, increased circulating growth hormone level, increased hair follicle apoptosis, increased heart weight, increased kidney weight, increased susceptibility to weight gain, liver/biliary system phenotype, long lower incisors, postnatal lethality, complete penetrance, premature aging, premature death, premature hair loss, rib fractures, thin ventricular wall, weakness