Blepharophimosis, Broad first metatarsal, Broad hallux, Broad hallux phalanx, Broad ribs, Bulbous nose, Cardiac arrest, Cardiomegaly, Coarse facial features, Complete right bundle branch block, Congenital, generalized hypertrichosis, Congenital hypertrophy of left ventricle, Coxa valga, Craniofacial hyperostosis, Cuboid-shaped vertebral bodies, Curly eyelashes, Deep plantar creases, Delayed skeletal maturation, Depressed nasal bridge, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, EMG abnormality, Enlarged posterior fossa, Epicanthus, Erlenmeyer flask deformity of the femurs, Everted lower lip vermilion, Finger syndactyly, First degree atrioventricular block, Furrowed tongue, Generalized hirsutism, Gingival overgrowth, Highly arched eyebrow, Hypertelorism, Hypertrophic cardiomyopathy, Hypoplastic ischiopubic ramus, Impaired myocardial contractility, Intellectual disability, Intellectual disability, mild, Large for gestational age, Large hands, Large sella turcica, Lipoatrophy, Long eyelashes, Long nose, Long philtrum, Low anterior hairline, Low posterior hairline, Lymphedema, Macrocephaly, Macroglossia, Metaphyseal widening, Micrognathia, Myopathy, Narrow chest, obsolete Abnormality of the metacarpal bones, obsolete Joint hyperflexibility, Oral synechia, Osteoporosis, Ovoid vertebral bodies, Palmoplantar keratoderma, Palpebral edema, Paroxysmal ventricular tachycardia, Patent ductus arteriosus, Pericardial effusion, Platyspondyly, Prominent forehead, Prominent supraorbital ridges, Seizure, Sensorineural hearing impairment, Short distal phalanx of finger, Short hallux, Short neck, Sick sinus syndrome, Skeletal dysplasia, Sloping forehead, Specific learning disability, ST segment elevation, Supraventricular tachycardia, Syncope, Synophrys, Tachycardia, Tapered finger, Thickened skin, Thick eyebrow, Thick lower lip vermilion, Thick nasal alae, Thick upper lip vermilion, Thick vermilion border, Trifascicular block, Umbilical hernia, Ventricular arrhythmia, Ventricular fibrillation, Ventricular tachycardia, Wide mouth, Wide nasal bridge

abnormal thoracic aorta morphology, abnormal vascular smooth muscle physiology, behavior/neurological phenotype, cardiac hypertrophy, coronary artery spasm, decreased cardiac muscle contractility, decreased fatty acid oxidation, decreased mitochondrial size, decreased myocardial infarct size, decreased oxygen consumption, decreased survivor rate, dilated heart left ventricle, homeostasis/metabolism phenotype, hypoxia, improved glucose tolerance, increased cardiac output, increased cardiac stroke volume, increased cellular sensitivity to hydrogen peroxide, increased heart weight, increased insulin sensitivity, increased muscle cell glucose uptake, increased systemic arterial blood pressure, increased systemic arterial diastolic blood pressure, increased systemic arterial systolic blood pressure, increased vasodilation, oxidative stress, postnatal lethality, complete penetrance, premature death, slow postnatal weight gain