Cleft palate, Clumsiness, Decreased fetal movement, Difficulty walking, Dysphagia, EMG: myopathic abnormalities, Edema of the dorsum of hands, Elevated circulating creatine kinase concentration, Exercise intolerance, Facial diplegia, Facial palsy, Fatigable weakness of bulbar muscles, Fatigable weakness of distal limb muscles, Fatigable weakness of respiratory muscles, Fatiguable weakness of proximal limb muscles, Feeding difficulties, Fetal akinesia sequence, Flexion contracture, Foot dorsiflexor weakness, Gait disturbance, Generalized hypotonia, Generalized limb muscle atrophy, Generalized muscle weakness, Genu valgum, Genu varum, High palate, High, narrow palate, Hip dislocation, Hyperlordosis, Hypertelorism, Hyporeflexia, Hypospadias, Increased connective tissue, Increased muscle lipid content, Increased variability in muscle fiber diameter, Kyphosis, Large fontanelles, Limb muscle weakness, Limb-girdle muscle weakness, Long face, Long philtrum, Low-set ears, Micrognathia, Micropenis, Mildly elevated creatine kinase, Motor delay, Multiple prenatal fractures, Muscle stiffness, Muscle weakness, Myopathic facies, Myopathy, Narrow chest, Narrow face, Neck flexor weakness, Neck muscle weakness, Nemaline bodies, Neonatal hypotonia, Neuromuscular dysphagia, Nocturnal hypoventilation, Ophthalmoplegia, Pectus excavatum, Pes cavus, Polyhydramnios, Premature birth, Ptosis, Pulmonary hypoplasia, Reduced vital capacity, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scapular winging, Scoliosis, Severe muscular hypotonia, Short neck, Skeletal muscle atrophy, Slender build, Spinal rigidity, Thin ribs, Type 1 muscle fiber predominance, Waddling gait