Centrally nucleated skeletal muscle fibers, Deeply set eye, Difficulty running, Dyslexia, EMG: myopathic abnormalities, Easy fatigability, Elevated circulating creatine kinase concentration, Epistaxis, Exercise-induced myalgia, External ophthalmoplegia, Fatigable weakness, Fatiguable weakness of proximal limb muscles, Flexion contracture, Frequent falls, High forehead, Howell-Jolly bodies, Hypohidrosis, Hypoplasia of the iris, Hyporeflexia of lower limbs, Hypotelorism, Hypotonia, Ichthyosis, Immunodeficiency, Increased muscle fatiguability, Increased variability in muscle fiber diameter, Lymphadenopathy, Migraine, Miosis, Muscle fiber tubular inclusions, Muscle spasm, Muscle stiffness, Myalgia, Myopathy, Nail dysplasia, Neurological speech impairment, Nyctalopia, Prominent nose, Proximal amyotrophy, Proximal muscle weakness, Purpura, Recurrent bacterial infections, Recurrent fever, Recurrent infections, Respiratory insufficiency, Short stature, Stroke-like episode, Thrombocytopenia, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscles

abnormal thrombopoiesis, abnormal thrombosis, cardiovascular system phenotype, decreased B cell proliferation, decreased birth body size, decreased freezing behavior, decreased interleukin-10 secretion, decreased interleukin-13 secretion, decreased interleukin-2 secretion, decreased interleukin-6 secretion, decreased mast cell degranulation, decreased susceptibility to type I hypersensitivity reaction, decreased tumor necrosis factor secretion, embryonic lethality between somite formation and embryo turning, incomplete penetrance, enlarged lymph nodes, hematopoietic system phenotype, homeostasis/metabolism phenotype, immune system phenotype, increased spleen red pulp amount, lethality throughout fetal growth and development, complete penetrance, neonatal lethality, incomplete penetrance, perinatal lethality, complete penetrance, perinatal lethality, incomplete penetrance, postnatal lethality, complete penetrance, preweaning lethality, complete penetrance