Congestive heart failure, Cryptorchidism, Decreased fetal movement, Delayed gross motor development, Dilated cardiomyopathy, Dysphagia, EMG: myopathic abnormalities, Elbow flexion contracture, Facial palsy, Failure to thrive, Fatigable weakness of bulbar muscles, Feeding difficulties, Flexion contracture, Flexion contracture of finger, Generalized amyotrophy, Generalized hypotonia, Generalized muscle weakness, Global developmental delay, Gowers sign, Hamstring contractures, High palate, High pitched voice, Hip contracture, Hip dysplasia, Hyperlordosis, Hyporeflexia, Hypotonia, Increased muscle lipid content, Increased variability in muscle fiber diameter, Intellectual disability, Intermittent episodes of respiratory insufficiency due to muscle weakness, Knee flexion contracture, Kyphoscoliosis, Limb joint contracture, Limited neck flexion, Long face, Lumbar hyperlordosis, Mandibular prognathia, Micrognathia, Microretrognathia, Mildly elevated creatine kinase, Minicore myopathy, Mitral valve prolapse, Motor delay, Multiple joint contractures, Muscle fiber atrophy, Muscular dystrophy, Myopathy, Narrow face, Nasal speech, Neck muscle weakness, Neonatal hypotonia, Nocturnal hypoventilation, Ophthalmoplegia, Pectus excavatum, Pes planus, Pneumonia, Polyhydramnios, Poor head control, Poor suck, Proximal muscle weakness, Ptosis, Pulmonary hypoplasia, Recurrent respiratory infections, Reduced forced vital capacity, Reduced tendon reflexes, Reduced vital capacity, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Right ventricular failure, Right ventricular hypertrophy, Scapular winging, Scoliosis, Short stature, Skeletal muscle atrophy, Spinal rigidity, Talipes equinovarus, Tented upper lip vermilion, Type 1 and type 2 muscle fiber minicore regions, Type 1 fibers relatively smaller than type 2 fibers, Type 1 muscle fiber atrophy, Waddling gait, Weak cry, Weakness of facial musculature, obsolete Congenital muscular dystrophy, obsolete Joint laxity, obsolete Restrictive deficit on pulmonary function testing

decreased quadriceps weight, decreased satellite cell number, decreased skeletal muscle fiber diameter, decreased skeletal muscle fiber size, decreased skeletal muscle mass, decreased soleus weight, decreased susceptibility to weight gain, decreased tibialis anterior weight, decreased vertical activity, enhanced exercise endurance, increased apoptosis, increased lung compliance, no abnormal phenotype detected