Delayed speech and language development, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Emphysema, Flexion contracture, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Gowers sign, Growth delay, Hydronephrosis, Hyperlordosis, Hypertelorism, Hyporeflexia, Hypotonia, Hypoventilation, Intellectual disability, mild, Laryngomalacia, Long philtrum, Malar flattening, Micrognathia, Midface retrusion, Motor delay, Muscular dystrophy, Patent foramen ovale, Periorbital edema, Progressive muscle weakness, Proximal muscle weakness, Pulmonary artery stenosis, Pulmonary hypoplasia, Pyloric stenosis, Rectal prolapse, Respiratory insufficiency, Retrognathia, Sandal gap, Scoliosis, Skeletal muscle atrophy, Sloping forehead, Specific learning disability, Tracheomalacia, Umbilical hernia, Vascular dilatation, Waddling gait, Wide nasal bridge, obsolete Joint laxity

dilated heart ventricle, enlarged lung, enlarged myocardial fiber, impaired skin barrier function, increased aorta wall thickness, increased gastrointestinal tumor incidence, increased heart weight, increased lung compliance, intestinal ulcer, overexpanded pulmonary alveoli, postnatal lethality, incomplete penetrance, proctitis, thick ventricular wall, thin dermal layer, ventricular cardiomyopathy