Distal muscle weakness, EMG: decremental response of compound muscle action potential to repetitive nerve stimulation, Easy fatigability, Elevated circulating creatine kinase concentration, Elevated circulating hepatic transaminase concentration, Exotropia, Facial palsy, Fatigable weakness, Favorable response of weakness to acetylcholine esterase inhibitors, Flexion contracture, Frequent falls, Generalized hypotonia, Generalized weakness of limb muscles, Global developmental delay, Gowers sign, High palate, Hyperreflexia, Hypoproteinemia, Hypotonia, Increased jitter at single fiber EMG, Intellectual disability, Inverted nipples, Jaundice, Knee flexion contracture, Limb-girdle muscle weakness, Lumbar hyperlordosis, Microcephaly, Micrognathia, Motor delay, Muscle fiber tubular inclusions, Muscle spasm, Myopathy, Nystagmus, Pes planus, Poor head control, Proximal muscle weakness, Ptosis, Ragged-red muscle fibers, Reduced antithrombin III activity, Respiratory insufficiency, Scapular winging, Scoliosis, Seizure, Single transverse palmar crease, Skin dimple, Spasticity, Tremor, Type 1 muscle fiber predominance, Type I transferrin isoform profile, Waddling gait, obsolete Joint laxity