EMG abnormality, External ophthalmoplegia, Facial palsy, Flexion contracture, Gait disturbance, Generalized muscle weakness, Head tremor, High palate, Hydrocephalus, Hypotonia, Long face, Macrocephaly, Mask-like facies, Narrow face, Neck muscle weakness, Neonatal respiratory distress, Polyhydramnios, Ptosis, Pyloric stenosis, Respiratory failure requiring assisted ventilation, Respiratory insufficiency, Scoliosis, Seizure, Severe muscular hypotonia, Skeletal muscle atrophy, Slender toe

decreased muscle weight, decreased quadriceps weight, decreased skeletal muscle fiber size, decreased skeletal muscle mass, decreased susceptibility to diet-induced obesity, decreased tibialis anterior weight, decreased vertical activity, hindlimb paralysis, impaired autophagy, increased variability of skeletal muscle fiber size, liver/biliary system phenotype, muscular atrophy, no abnormal phenotype detected, oxidative stress, perinatal lethality, incomplete penetrance, premature death, reduced male fertility, reproductive system phenotype, respiratory system phenotype, skeletal muscle fiber atrophy