Broad nasal tip, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Clinodactyly of the 2nd toe, Cognitive impairment, Congestive heart failure, Delayed eruption of teeth, Delayed speech and language development, Depressed nasal bridge, Difficulty climbing stairs, Dilated cardiomyopathy, Downslanted palpebral fissures, Drooling, Elevated circulating creatine kinase concentration, Elevated circulating hepatic transaminase concentration, EMG abnormality, Exercise intolerance, Facial palsy, Falls, Fatigue, Flexion contracture, Generalized hypotonia, Generalized non-motor (absence) seizure, Global developmental delay, Gowers sign, Hyperlordosis, Hyporeflexia, Hypotonia, Hypoventilation, Intellectual disability, mild, Intellectual disability, moderate, Intellectual disability, profound, Intellectual disability, severe, Lipoatrophy, Long palpebral fissure, Long philtrum, Macrocephaly, Meckel diverticulum, Midface retrusion, Mild neurosensory hearing impairment, Moderate sensorineural hearing impairment, Motor delay, Muscle spasm, Muscle weakness, Muscular dystrophy, Myalgia, Myoglobinuria, Myopathy, Obesity, obsolete Difficulty walking, obsolete Toe walking, Palmoplantar keratoderma, Periorbital fullness, Pes planus, Poor speech, Progressive muscle weakness, Proximal muscle weakness, Pyloric stenosis, Respiratory insufficiency, Scoliosis, Seizure, Sensorineural hearing impairment, Shortening of all distal phalanges of the fingers, Skeletal muscle atrophy, Small for gestational age, Specific learning disability, Thick lower lip vermilion, Thin upper lip vermilion, Urinary incontinence, Waddling gait, Widened subarachnoid space

abnormal Muller cell morphology, abnormal muscle contractility, abnormal muscle development, abnormal muscle electrophysiology, abnormal myocardial fiber morphology, abnormal myocardial fiber physiology, abnormal myotube morphology, abnormal neuromuscular synapse morphology, abnormal plasma membrane morphology, abnormal sarcolemma morphology, abnormal scalene muscle morphology, abnormal skeletal muscle morphology, abnormal skeletal muscle regeneration, abnormal skeletal muscle satellite cell proliferation, abnormal vertebral column morphology, adipose tissue phenotype, behavior/neurological phenotype, cardiac fibrosis, cardiac muscle degeneration, cardiovascular system phenotype, decreased aerobic running capacity, decreased body fat mass, decreased body size, decreased cardiac muscle contractility, decreased cardiac output, decreased cardiac stroke volume, decreased grip strength, decreased litter size, decreased physiological sensitivity to xenobiotic, decreased P wave amplitude, decreased quadriceps weight, decreased skeletal muscle fiber diameter, decreased skeletal muscle fiber number, decreased skeletal muscle fiber size, decreased skeletal muscle mass, decreased skeletal muscle weight, decreased susceptibility to Picornaviridae infection, diaphragmitis, dilated sarcoplasmic reticulum, dystrophic cardiac calcinosis, heart inflammation, homeostasis/metabolism phenotype, impaired exercise endurance, impaired skeletal muscle contractility, increased body size, increased creatine kinase activity, increased creatine kinase level, increased growth hormone level, increased interferon-gamma secretion, increased interleukin-12 secretion, increased interleukin-2 secretion, increased interleukin-4 secretion, increased interleukin-6 secretion, increased or absent threshold for auditory brainstem response, increased quadriceps weight, increased satellite cell number, increased skeletal muscle fiber diameter, increased skeletal muscle fiber number, increased skeletal muscle fiber size, increased skeletal muscle mass, increased skeletal muscle weight, increased somatotroph cell size, increased susceptibility to noise-induced hearing loss, increased total body fat amount, increased transforming growth factor beta level, increased tumor necrosis factor secretion, increased variability of skeletal muscle fiber size, muscle degeneration, muscle phenotype, muscular atrophy, myocardial fiber degeneration, myocardial fiber disarray, nervous system phenotype, no abnormal phenotype detected, preweaning lethality, incomplete penetrance, prolonged P wave, prolonged QRS complex duration, reduced female fertility, reduced fertility, retina ischemia, short stride length, skeletal muscle degeneration, skeletal muscle endomysial fibrosis, skeletal muscle fiber atrophy, skeletal muscle fiber degeneration, skeletal muscle fiber necrosis, skeletal muscle fibrosis, skeletal muscle necrosis, slow postnatal weight gain, thick ventricular wall, vision/eye phenotype