Difficulty walking, Dyslexia, EMG: myopathic abnormalities, Ectodermal dysplasia, Elevated circulating creatine kinase concentration, Epistaxis, Failure to thrive, Falls, Fatigable weakness, Fatiguable weakness of proximal limb muscles, Flexion contracture, Foot dorsiflexor weakness, Generalized muscle weakness, Gowers sign, Heat intolerance, High forehead, Howell-Jolly bodies, Hypocalcemia, Hypotelorism, Hypotonia, Ichthyosis, Immunodeficiency, Increased muscle fatiguability, Increased variability in muscle fiber diameter, Migraine, Miosis, Muscle fiber tubular inclusions, Muscle spasm, Muscle weakness, Myalgia, Myopathy, Neck muscle weakness, Neurological speech impairment, Prominent nose, Proximal muscle weakness, Purpura, Recurrent aphthous stomatitis, Recurrent fever, Recurrent infections, Respiratory insufficiency due to muscle weakness, Short stature, Spinal rigidity, Stomatitis, Stroke-like episode, Thrombocytopenia, Type 2 muscle fiber atrophy

decreased interferon-gamma secretion, decreased interleukin-10 secretion, decreased interleukin-2 secretion, decreased interleukin-4 secretion, decreased leukotriene level, decreased platelet calcium level, decreased survivor rate, decreased susceptibility to type I hypersensitivity reaction, neonatal lethality, complete penetrance, perinatal lethality, complete penetrance, perinatal lethality, incomplete penetrance, prenatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, short vibrissae