Centrally nucleated skeletal muscle fibers, Cryptorchidism, Decreased fetal movement, Delayed gross motor development, Delayed speech and language development, Difficulty climbing stairs, Difficulty running, Difficulty walking, Distal muscle weakness, Dysarthria, Dysphonia, EMG: decremental response of compound muscle action potential to repetitive nerve stimulation, EMG: myopathic abnormalities, Easy fatigability, Exercise-induced myalgia, External ophthalmoplegia, Facial diplegia, Facial palsy, Feeding difficulties in infancy, Flexion contracture, Generalized amyotrophy, Generalized hypotonia, Gowers sign, High palate, Hip contracture, Hyperlordosis, Intellectual disability, mild, Kyphosis, Large for gestational age, Left ventricular hypertrophy, Long face, Macrocephaly at birth, Malignant hyperthermia, Mildly elevated creatine kinase, Miscarriage, Motor delay, Muscle fibrillation, Narrow mouth, Neonatal asphyxia, Neonatal hypotonia, Ophthalmoparesis, Ophthalmoplegia, Peripheral axonal neuropathy, Pes cavus, Polyhydramnios, Progressive muscle weakness, Protruding ear, Proximal muscle weakness, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ptosis, Pyloric stenosis, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Retrognathia, Scapular winging, Scoliosis, Skeletal muscle hypertrophy, Sleepy facial expression, Talipes equinovarus, Thin ribs, Type 1 muscle fiber predominance, Urinary incontinence, Waddling gait

immune system phenotype, increased granulosa cell tumor incidence, increased incidence of tumors by chemical induction, increased mammary gland tumor incidence, neonatal lethality, complete penetrance, thick ventricular wall, ventricular cardiomyopathy