Diaphragmatic weakness, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, EMG: neuropathic changes, Failure to thrive, Foot dorsiflexor weakness, Gait disturbance, Hyperhidrosis, Hyporeflexia, Inspiratory stridor, Intrauterine growth retardation, Limb muscle weakness, Peripheral axonal degeneration, Premature birth, Proximal muscle weakness, Respiratory insufficiency, Scoliosis, Sensorimotor neuropathy, Small for gestational age, Spinal muscular atrophy, Steppage gait, Tachypnea, Talipes equinovarus, Urinary incontinence, Ventilator dependence with inability to wean, Weak cry

abnormal impulse conducting system conduction, abnormal innervation pattern to muscle, abnormal intercalated disk morphology, abnormal masseter muscle morphology, abnormal myocardial fiber morphology, abnormal neuromuscular synapse morphology, abnormal temporalis muscle morphology, cardiac interstitial fibrosis, cardiovascular system phenotype, decreased bone mineral content, decreased circulating alkaline phosphatase level, decreased circulating aspartate transaminase level, decreased grip strength, decreased hematocrit, decreased locomotor activity, decreased mean corpuscular volume, decreased pulmonary respiratory rate, decreased systemic arterial systolic blood pressure, decreased vertical activity, dilated heart atrium, dilated heart ventricle, enlarged esophagus, hindlimb paralysis, increased anxiety-related response, increased freezing behavior, increased heart rate variability, increased thigmotaxis, increased variability of skeletal muscle fiber size, limb grasping, muscle degeneration, muscle phenotype, myocardial fiber degeneration, nervous system phenotype, premature death, preweaning lethality, complete penetrance, prolonged P wave, prolonged QRS complex duration, skeletal muscle fiber atrophy, skeletal muscle interstitial fibrosis, thin ventricular wall