Delayed speech and language development, Diaphragmatic eventration, Dry skin, Dysphagia, EMG: myopathic abnormalities, Feeding difficulties, Flexion contracture, Follicular hyperkeratosis, Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Generalized amyotrophy, Generalized hypotonia, Global developmental delay, High palate, Hypertelorism, Hypohidrosis, Increased variability in muscle fiber diameter, Limb muscle weakness, Microretrognathia, Mildly elevated creatine kinase, Minicore myopathy, Motor delay, Multiple joint contractures, Multiple prenatal fractures, Muscle fiber atrophy, Muscle weakness, Muscular dystrophy, Narrow mouth, Neck muscle weakness, Neonatal respiratory distress, Oligohydramnios, Overweight, Patent ductus arteriosus, Patent foramen ovale, Pectus excavatum, Peripheral axonal neuropathy, Pes valgus, Poor head control, Premature birth, Pulmonary hypoplasia, Recurrent respiratory infections, Respiratory insufficiency due to muscle weakness, Scoliosis, Secundum atrial septal defect, Severe muscular hypotonia, Spinal muscular atrophy, Spinal rigidity, Weak cry, obsolete Joint laxity