Areflexia, Arthrogryposis multiplex congenita, Axial muscle weakness, Bilateral single transverse palmar creases, Bradykinesia, Breech presentation, Bulbar palsy, Bulbar signs, Calcaneovalgus deformity, Calf muscle hypertrophy, Camptodactyly, Camptodactyly of finger, Cardiomyopathy, Central hypoventilation, Centrally nucleated skeletal muscle fibers, Clumsiness, Congenital hip dislocation, Cryptorchidism, Decreased fetal movement, Decreased hip abduction, Difficulty climbing stairs, Difficulty running, Difficulty walking, Dilated cardiomyopathy, Distal arthrogryposis, Downslanted palpebral fissures, Dysphagia, EMG: myopathic abnormalities, Easy fatigability, Elbow flexion contracture, Elevated circulating creatine kinase concentration, Exercise intolerance, Facial diplegia, Facial palsy, Failure to thrive, Fatigable weakness of bulbar muscles, Fatigable weakness of distal limb muscles, Fatigable weakness of respiratory muscles, Fatiguable weakness of proximal limb muscles, Feeding difficulties, Feeding difficulties in infancy, Fetal akinesia sequence, Flexion contracture, Flexion contracture of finger, Foot dorsiflexor weakness, Frequent falls, Gait disturbance, Generalized amyotrophy, Generalized hypotonia, Generalized limb muscle atrophy, Generalized muscle weakness, Genu valgum, Genu varum, Gowers sign, Hand clenching, High palate, Hip contracture, Hip dislocation, Hyperlordosis, Hypertelorism, Hyporeflexia, Hypotonia, Increased muscle lipid content, Increased variability in muscle fiber diameter, Intellectual disability, Joint contracture of the hand, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Kyphosis, Limb joint contracture, Limb muscle weakness, Limb-girdle muscle weakness, Long face, Long philtrum, Low-set ears, Lower limb amyotrophy, Lower limb muscle weakness, Lumbar hyperlordosis, Mandibular prognathia, Metatarsus adductus, Micrognathia, Mildly elevated creatine kinase, Mitral valve prolapse, Motor delay, Muscle stiffness, Myopathic facies, Myopathy, Narrow chest, Narrow face, Narrow mouth, Nasal speech, Neck flexor weakness, Neck muscle weakness, Nemaline bodies, Neonatal hypotonia, Neuromuscular dysphagia, Nocturnal hypoventilation, Ophthalmoplegia, Overlapping fingers, Overlapping toe, Pectus excavatum, Pes cavus, Pes planus, Pes valgus, Polyhydramnios, Poor head control, Poor suck, Prominent nasolabial fold, Protruding ear, Proximal muscle weakness, Ptosis, Pulmonary hypoplasia, Recurrent respiratory infections, Reduced forced vital capacity, Reduced systolic function, Reduced tendon reflexes, Reduced vital capacity, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Retrognathia, Rocker bottom foot, Round ear, Scapular winging, Scoliosis, Sensorineural hearing impairment, Short neck, Short stature, Single transverse palmar crease, Sinus tachycardia, Skeletal muscle atrophy, Slender build, Spinal rigidity, Stiff shoulders, Talipes equinovarus, Tarsal synostosis, Tented upper lip vermilion, Thoracic scoliosis, Triangular face, Trismus, Type 1 fibers relatively smaller than type 2 fibers, Type 1 muscle fiber atrophy, Type 1 muscle fiber predominance, Ulnar deviation of finger, Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the wrist, Vertebral segmentation defect, Waddling gait, Weak cry, Webbed neck, Wide nasal bridge, obsolete Joint laxity, obsolete Toe walking