Arthrogryposis multiplex congenita, Blepharophimosis, Bradykinesia, Bulbar palsy, Camptodactyly of finger, Cavum septum pellucidum, Cerebellar hypoplasia, Cleft palate, Cryptorchidism, Cyanosis, Cystic hygroma, Dandy-Walker malformation, Decreased fetal movement, Decreased miniature endplate potentials, Decreased size of nerve terminals, Delayed gross motor development, Depressed nasal bridge, Depressed nasal tip, Diplopia, Distal amyotrophy, Drowsiness, EMG: decremental response of compound muscle action potential to repetitive nerve stimulation, EMG: myopathic abnormalities, Easy fatigability, Elbow ankylosis, Excessive daytime somnolence, Exertional dyspnea, Facial palsy, Fatigable weakness, Fatigable weakness of neck muscles, Fatigable weakness of respiratory muscles, Fetal akinesia sequence, Generalized amyotrophy, Gowers sign, High palate, High, narrow palate, Hip flexor weakness, Hydrocephalus, Hypertelorism, Intestinal hypoplasia, Intrauterine growth retardation, Long philtrum, Micrognathia, Mildly elevated creatine kinase, Multiple joint contractures, Muscle spasm, Muscle weakness, Narrow mouth, Neck flexor weakness, Ophthalmoparesis, Orthopnea, Polyhydramnios, Posteriorly rotated ears, Premature birth, Proptosis, Proximal amyotrophy, Pterygium, Ptosis, Pulmonary hypoplasia, Reduced tendon reflexes, Reduced vital capacity, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Rocker bottom foot, Scoliosis, Short neck, Short palpebral fissure, Short umbilical cord, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Slender long bone, Small for gestational age, Small placenta, Talipes equinovarus, Telecanthus, Thin ribs, Thoracic hypoplasia, Thoracic kyphoscoliosis, Triceps weakness, Type 1 muscle fiber predominance, Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers of the hand, Upper limb muscle weakness, Waddling gait, Weakness of long finger extensor muscles, Weakness of the intrinsic hand muscles