Cleft palate, Cyanosis, Cystic hygroma, Decreased miniature endplate potentials, Decreased size of nerve terminals, Delayed gross motor development, Depressed nasal ridge, Diplopia, Drowsiness, Dysarthria, Dysphagia, EMG: decremental response of compound muscle action potential to repetitive nerve stimulation, EMG: myopathic abnormalities, Easy fatigability, Edema, Epicanthus, Exertional dyspnea, Facial palsy, Fatigable weakness, Fatigable weakness of neck muscles, Fatigable weakness of respiratory muscles, Feeding difficulties, Fetal akinesia sequence, Flexion contracture, Generalized muscle weakness, Gowers sign, High palate, Hip flexor weakness, Hypertelorism, Hypoplastic heart, Hypotonia, Increased susceptibility to fractures, Intermittent episodes of respiratory insufficiency due to muscle weakness, Intrauterine growth retardation, Joint dislocation, Low-set ears, Macrotia, Malignant hyperthermia, Micrognathia, Motor delay, Multiple pterygia, Muscle weakness, Neck flexor weakness, Neck muscle weakness, Neonatal hypotonia, Ophthalmoparesis, Ophthalmoplegia, Orthopnea, Polyhydramnios, Poor suck, Prolonged miniature endplate currents, Ptosis, Pulmonary hypoplasia, Reduced tendon reflexes, Reduced vital capacity, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Scoliosis, Short finger, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Thin ribs, Thoracic kyphoscoliosis, Triceps weakness, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy, Upper limb muscle weakness, Vertebral fusion, Weak cry, Weakness of long finger extensor muscles, Weakness of the intrinsic hand muscles