Amyotrophy of ankle musculature, Arrhythmia, Arterial thrombosis, Asymmetric septal hypertrophy, Atrial fibrillation, Atrial septal defect, Atrial standstill, Axial muscle weakness, Beevor's sign, Bicuspid aortic valve, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Cerebral ischemia, Chest pain, Chronic pulmonary obstruction, Coarctation of aorta, Congestive heart failure, Decreased Achilles reflex, Decreased patellar reflex, Delayed gross motor development, Difficulty walking, Dilated cardiomyopathy, Distal lower limb muscle weakness, Distal muscle weakness, EMG abnormality, EMG: myopathic abnormalities, EMG: neuropathic changes, Ebstein anomaly of the tricuspid valve, Elevated circulating creatine kinase concentration, Enlargement of the ankles, Facial palsy, Failure to thrive, Fatigue, Foot dorsiflexor weakness, Gait disturbance, Generalized amyotrophy, Generalized hypotonia, Generalized limb muscle atrophy, Generalized muscle weakness, Hand muscle weakness, Heart murmur, High palate, High pitched voice, Hip dysplasia, Hyperlordosis, Hypertension, Hypertrophic cardiomyopathy, Imperforate tricuspid valve, Increased endomysial connective tissue, Increased muscle lipid content, Increased variability in muscle fiber diameter, Intellectual disability, Intermittent episodes of respiratory insufficiency due to muscle weakness, Left anterior fascicular block, Left ventricular noncompaction, Limitation of movement at ankles, Limited hip movement, Limited neck flexion, Limited shoulder movement, Limited wrist extension, Lipoatrophy, Mandibular prognathia, Microretrognathia, Mildly elevated creatine kinase, Minicore myopathy, Mitral valve prolapse, Multiple joint contractures, Muscle fiber atrophy, Muscle fiber splitting, Muscle spasm, Myalgia, Myopathic facies, Myopathy, Neck muscle weakness, Nocturnal hypoventilation, Palmoplantar keratoderma, Patent ductus arteriosus, Pes cavus, Pes planus, Poor head control, Premature birth, Progressive muscle weakness, Proximal lower limb amyotrophy, Proximal muscle weakness, Proximal muscle weakness in lower limbs, Pulmonary artery hypoplasia, Ragged-red muscle fibers, Reduced tendon reflexes, Reduced vital capacity, Respiratory insufficiency, Right bundle branch block, Right ventricular failure, Right ventricular hypertrophy, Rimmed vacuoles, Scapular winging, Scapuloperoneal amyotrophy, Scapuloperoneal myopathy, Scapuloperoneal weakness, Scoliosis, Sensorineural hearing impairment, Short stature, Shoulder girdle muscle atrophy, Shoulder girdle muscle weakness, Spinal rigidity, Steppage gait, Subvalvular aortic stenosis, Sudden cardiac death, Talipes cavus equinovarus, Tibialis muscle weakness, Toe extensor amyotrophy, Triceps weakness, Tricuspid regurgitation, Type 1 muscle fiber predominance, Upper limb amyotrophy, Upper limb muscle weakness, Ventricular arrhythmia, Ventricular preexcitation, Waddling gait, Weakness of facial musculature, Weakness of long finger extensor muscles, Weakness of orbicularis oculi muscle, obsolete Congenital muscular dystrophy, obsolete Restrictive deficit on pulmonary function testing

increased lung weight, no abnormal phenotype detected