Abnormal left ventricular function, Abnormal lymphocyte physiology, Abnormal myocardium morphology, Abnormal pinna morphology, Abnormal testis morphology, Abnormal thorax morphology, Abnormal trabecular bone morphology, Abnormality of circulating leptin level, Abnormality of complement system, Abnormality of retinal pigmentation, Abnormality of skeletal muscle fiber size, Abnormality of the Achilles tendon, Abnormality of the dentition, Abnormality of the intrahepatic bile duct, Abnormality of the musculature, Abnormality of the nail, Abnormality of the pulmonary artery, Abnormality of the vasculature, Abnormality of the voice, Absence of pubertal development, Absence of subcutaneous fat, Absent eyebrow, Absent eyelashes, Absent muscle fiber emerin, Acanthosis nigricans, Accelerated atherosclerosis, Achilles tendon contracture, Acral lentiginous melanoma, Acroosteolysis of distal phalanges (feet), Acute pancreatitis, Adipose tissue loss, Adrenal hypoplasia, Advanced eruption of teeth, Alopecia universalis, Aminoaciduria, Angina pectoris, Ankylosis, Aortic atherosclerotic lesion, Aortic root aneurysm, Aortic valve calcification, Aortic valve stenosis, Aplasia of the middle phalanx of the hand, Aplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the skin, Aplasia/Hypoplasia of the testes, Aplasia/Hypoplastia of the eccrine sweat glands, Aplastic clavicle, Areflexia, Arrhythmia, Arteriosclerosis of small cerebral arteries, Arthralgia, Arthrogryposis multiplex congenita, Ascending tubular aorta aneurysm, Atherosclerosis, Atrial fibrillation, Atrial flutter, Atrial septal defect, Atrioventricular block, Axial muscle weakness, Axonal degeneration/regeneration, Back pain, Basal cell carcinoma, Bilateral coxa valga, Bird-like facies, Blepharophimosis, Brachydactyly, Bradycardia, Breast aplasia, Breast carcinoma, Broad-based gait, Cachexia, Calcinosis, Calf muscle hypertrophy, Camptodactyly of finger, Cardiac conduction abnormality, Carotid artery stenosis, Cataract, Cellulitis, Choanal atresia, Chondrocalcinosis, Clinodactyly, Congenital adrenal hypoplasia, Congenital pseudoarthrosis of the clavicle, Congestive heart failure, Convex nasal ridge, Coronary artery atherosclerosis, Cranial nerve paralysis, Craniofacial disproportion, Cutaneous melanoma, Cyanosis, Decreased HDL cholesterol concentration, Decreased adiponectin level, Decreased body weight, Decreased calvarial ossification, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Decreased fertility, Decreased fetal movement, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Decreased serum estradiol, Decreased serum leptin, Decreased serum testosterone concentration, Decreased skull ossification, Delayed cranial suture closure, Delayed eruption of teeth, Delayed puberty, Dental crowding, Dermal atrophy, Dermal translucency, Developmental cataract, Dextrocardia, Diabetes mellitus, Difficulty running, Difficulty walking, Dilated cardiomyopathy, Distal amyotrophy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Distal muscle weakness, Distal sensory impairment, Down-sloping shoulders, Downslanted palpebral fissures, Dysmenorrhea, EMG abnormality, EMG: myopathic abnormalities, Eclampsia, Elbow flexion contracture, Elevated circulating creatine kinase concentration, Emphysema, Enlarged peripheral nerve, Entropion, Exercise-induced myalgia, Failure to thrive, Fasting hyperinsulinemia, Fatiguable weakness of proximal limb muscles, Feeding difficulties, Finger clinodactyly, Flexion contracture, Foot dorsiflexor weakness, Fragile nails, Full cheeks, Gait disturbance, Gastrointestinal carcinoma, Generalized amyotrophy, Generalized hirsutism, Generalized hyperkeratosis, Generalized hypotonia, Generalized lipodystrophy, Generalized osteoporosis, Global developmental delay, Glomerulopathy, Glucose intolerance, Glycosuria, Growth delay, Hearing impairment, Heart block, Hepatic steatosis, Hepatomegaly, High palate, High pitched voice, Hip dislocation, Hip dysplasia, Hirsutism, Hydropic placenta, Hypercholesterolemia, Hyperglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hyperkeratosis, Hyperlipidemia, Hyperlordosis, Hypermetropia, Hyperphosphatemia, Hyperpigmentation of the skin, Hypertelorism, Hypertension, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Hypodontia, Hypogonadism, Hypogonadotropic hypogonadism, Hypohidrosis, Hypoplasia of teeth, Hypoplastic facial bones, Hypoplastic nipples, Hyporeflexia, Hyporeflexia of lower limbs, Hypospadias, Hypotonia, Ichthyosis, Impaired glucose tolerance, Increased LDL cholesterol concentration, Increased adipose tissue around the neck, Increased anterioposterior diameter of thorax, Increased bone mineral density, Increased facial adipose tissue, Increased intraabdominal fat, Increased intramuscular fat, Infertility, Insulin resistance, Insulin-resistant diabetes mellitus, Insulin-resistant diabetes mellitus at puberty, Intellectual disability, Intermittent claudication, Intervertebral disc degeneration, Intracranial hemorrhage, Intrauterine growth retardation, Ischemic stroke, Joint stiffness, Keratoconjunctivitis sicca, Kyphoscoliosis, Kyphosis, Labial pseudohypertrophy, Lack of skin elasticity, Large fontanelles, Large placenta, Laryngomalacia, Left ventricular hypertrophy, Limb muscle weakness, Limb-girdle muscle atrophy, Limb-girdle muscle weakness, Limb-girdle muscular dystrophy, Limitation of joint mobility, Lipoatrophy, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Loss of truncal subcutaneous adipose tissue, Low-set ears, Macrotia, Malar flattening, Melanoma, Meningioma, Metaphyseal widening, Microcolon, Micrognathia, Midface retrusion, Mildly elevated creatine kinase, Minimal subcutaneous fat, Miscarriage, Mitral regurgitation, Mitral valve calcification, Mitral valve prolapse, Motor delay, Mottled pigmentation, Multiple joint contractures, Muscle hypertrophy of the lower extremities, Muscle weakness, Muscular dystrophy, Myalgia, Myocardial infarction, Myopathy, Myotonia, Nail dysplasia, Narrow chest, Narrow face, Narrow mouth, Narrow nasal ridge, Narrow nasal tip, Nasal speech, Natal tooth, Neck muscle weakness, Neonatal hypotonia, Neoplasm, Neoplasm of the breast, Neoplasm of the lung, Neoplasm of the oral cavity, Neoplasm of the skin, Neoplasm of the small intestine, Neoplasm of the thyroid gland, Obesity, Onion bulb formation, Osteoarthritis, Osteolysis, Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the phalanges of the hand, Osteopenia, Osteoporosis, Osteosarcoma, Ovarian neoplasm, Overtubulated long bones, Ovoid vertebral bodies, Pancreatitis, Papillary renal cell carcinoma, Patchy hypo- and hyperpigmentation, Patent ductus arteriosus, Pectus excavatum, Pericardial effusion, Peripheral arterial stenosis, Peripheral axonal atrophy, Peroneal muscle atrophy, Peroneal muscle weakness, Pes cavus, Pes planus, Pili torti, Polycystic ovaries, Polyhydramnios, Poor head control, Precocious atherosclerosis, Precocious puberty, Premature arteriosclerosis, Premature birth, Premature coronary artery atherosclerosis, Premature delivery because of cervical insufficiency or membrane fragility, Premature graying of hair, Premature loss of teeth, Premature ovarian insufficiency, Premature rupture of membranes, Premature skin wrinkling, Prematurely aged appearance, Progeroid facial appearance, Progressive clavicular acroosteolysis, Prolonged QT interval, Prolonged prothrombin time, Prominent forehead, Prominent scalp veins, Prominent superficial blood vessels, Prominent superficial veins, Proptosis, Proximal lower limb amyotrophy, Proximal muscle weakness, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Proximal upper limb muscle hypertrophy, Ptosis, Pulmonary artery stenosis, Pulmonary carcinoid tumor, Pulmonary hypoplasia, Reduced bone mineral density, Reduced subcutaneous adipose tissue, Reduced tendon reflexes, Regional abnormality of skin, Renal neoplasm, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Restricted neck movement due to contractures, Reticulated skin pigmentation, Retinal degeneration, Retrognathia, Rimmed vacuoles, Rocker bottom foot, Round face, Sarcoma, Scaling skin, Scapular winging, Scleroderma, Sclerosis of hand bone, Scoliosis, Secondary amenorrhea, Seizure, Sensorineural hearing impairment, Severe muscular hypotonia, Short clavicles, Short distal phalanx of finger, Short nail, Short palm, Short palpebral fissure, Short stature, Short umbilical cord, Sinoatrial block, Sinus tachycardia, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Skin erosion, Skin ulcer, Slender build, Small hand, Small placenta, Sparse body hair, Sparse eyebrow, Sparse eyelashes, Sparse hair, Sparse or absent eyelashes, Sparse scalp hair, Spinal rigidity, Splenomegaly, Sprengel anomaly, Squamous cell carcinoma, Squamous cell carcinoma of the skin, Steppage gait, Stiff skin, Stroke, Structural foot deformity, Subcutaneous calcification, Submucous cleft hard palate, Sudden cardiac death, Supraventricular arrhythmia, Supraventricular tachycardia, Syncope, Syndactyly, Talipes equinovarus, Tapering pointed ends of distal finger phalanges, Telangiectasia of the skin, Telecanthus, Temporomandibular joint ankylosis, Thin bony cortex, Thin clavicles, Thin nail, Thin ribs, Thin skin, Thin vermilion border, Thoracic kyphoscoliosis, Thrombocytosis, Thyroid carcinoma, Transient ischemic attack, Transposition of the great arteries, Type 1 muscle fiber atrophy, Type II diabetes mellitus, Upper limb muscle weakness, Ureteral duplication, Ventricular arrhythmia, Ventricular escape rhythm, Ventricular hypertrophy, Vocal cord paralysis, Waddling gait, Webbed neck, White forelock, Wide nasal bridge, Widely patent fontanelles and sutures, Wormian bones, Xanthomatosis, obsolete Congenital muscular dystrophy, obsolete Hypotrichosis, obsolete Joint hyperflexibility, obsolete Sparse and thin eyebrow, obsolete Toe walking

abnormal cholinergic neuron morphology, abnormal chromosomal synapsis, abnormal colon morphology, abnormal coronal suture morphology, abnormal cranium morphology, abnormal diaphragm morphology, abnormal distortion product otoacoustic emission, abnormal double-strand DNA break repair, abnormal ear development, abnormal ear morphology, abnormal enteric neuron morphology, abnormal epidermal melanocyte morphology, abnormal epidermis stratum basale morphology, abnormal epidermis stratum granulosum morphology, abnormal esophageal smooth muscle morphology, abnormal esophageal squamous epithelium morphology, abnormal fat cell differentiation, abnormal female meiosis, abnormal frontonasal suture morphology, abnormal gastrocnemius morphology, abnormal hair cycle anagen phase, abnormal hair follicle morphology, abnormal heart development, abnormal heart echocardiography feature, abnormal hypaxial muscle morphology, abnormal impulse conducting system conduction, abnormal interstitial cell of Cajal morphology, abnormal keratinocyte morphology, abnormal lambdoid suture morphology, abnormal meiosis, abnormal middle ear epithelium morphology, abnormal mitochondrial ATP synthesis coupled electron transport, abnormal mitosis, abnormal mitotic spindle assembly checkpoint, abnormal muscle development, abnormal myocardial fiber morphology, abnormal nasopharynx morphology, abnormal neurocranium morphology, abnormal nuclear lamina morphology, abnormal peritoneal macrophage morphology, abnormal physiological neovascularization, abnormal sagittal suture morphology, abnormal sarcomere morphology, abnormal sciatic nerve morphology, abnormal soleus morphology, abnormal suckling behavior, abnormal tail morphology, abnormal tibialis anterior morphology, abnormal tympanic membrane morphology, abnormal vascular smooth muscle physiology, abnormal vasodilation, abnormal zygomatic arch morphology, adipose tissue phenotype, aneuploidy, arrest of male meiosis, behavior/neurological phenotype, cardiac fibrosis, cardiac hypertrophy, cardiac interstitial fibrosis, cardiac muscle degeneration, craniofacial phenotype, decreased abdominal adipose tissue amount, decreased body size, decreased bone mineral content, decreased bone mineralization, decreased bone trabecula number, decreased bone volume, decreased capillary density, decreased cardiac muscle contractility, decreased cardiac output, decreased circulating glucose level, decreased circulating lactate level, decreased core body temperature, decreased cranium height, decreased eccrine gland number, decreased fibroblast proliferation, decreased grip strength, decreased hair follicle number, decreased heart left ventricle weight, decreased heart weight, decreased liver glycogen level, decreased locomotor activity, decreased myocardial fiber number, decreased percent body fat/body weight, decreased quadriceps weight, decreased sebaceous gland number, decreased skeletal muscle fiber diameter, decreased skeletal muscle fiber size, decreased survivor rate, decreased trabecular bone thickness, decreased trabecular bone volume, decreased vascular endothelial cell number, decreased ventricle muscle contractility, decreased white adipose tissue amount, dilated esophagus, dilated heart atrium, dilated heart left ventricle, disheveled coat, distended cecum, enlarged heart atrium, epidermal hyperplasia, esophageal achalasia, flaky skin, growth/size/body region phenotype, homeostasis/metabolism phenotype, hunched posture, impaired exercise endurance, increased aorta wall thickness, increased bone trabecular spacing, increased circulating adiponectin level, increased circulating alkaline phosphatase level, increased circulating growth hormone level, increased circulating ketone body level, increased heart weight, increased middle ear goblet cell number, increased or absent threshold for auditory brainstem response, increased susceptibility to otitis media, increased triglyceride level, kinked tail, limbs/digits/tail phenotype, liver/biliary system phenotype, mandible hypoplasia, meteorism, muscle degeneration, muscle phenotype, muscular atrophy, myocardial fiber degeneration, nervous system phenotype, no abnormal phenotype detected, poor grooming, postnatal lethality, complete penetrance, premature aging, premature death, preweaning lethality, complete penetrance, prolonged P wave, prolonged QRS complex duration, prolonged RR interval, reduced female fertility, reproductive system phenotype, rib fractures, rough coat, sebaceous gland hypoplasia, short maxilla, short upper incisors, skeletal muscle degeneration, skeletal muscle fibrosis, skeleton phenotype, slow postnatal weight gain, small cranium, small heart, small myocardial fiber, small seminiferous tubules, small spleen, small thymus, small xiphoid process, thin dermal layer, thin myocardium, thymus atrophy, tympanic membrane retraction, vascular smooth muscle hypoplasia