Decreased fetal movement, Diaphragmatic weakness, Distal joint hypermobility, Distal muscle weakness, EMG abnormality, EMG: myopathic abnormalities, Elbow flexion contracture, Elevated circulating creatine kinase concentration, Esotropia, Facial palsy, Failure to thrive, Feeding difficulties in infancy, Flexion contracture, Focal dystonia, Follicular hyperkeratosis, Frequent falls, Generalized amyotrophy, Generalized hypotonia, Generalized muscle weakness, High palate, Hip dislocation, Hyperhidrosis, Increased endomysial connective tissue, Increased laxity of ankles, Increased laxity of fingers, Increased variability in muscle fiber diameter, Joint stiffness, Knee flexion contracture, Kyphosis, Laryngeal dystonia, Limb dystonia, Limb-girdle muscle weakness, Long toe, Micrognathia, Mildly elevated creatine kinase, Motor delay, Multiple joint contractures, Muscle fiber necrosis, Muscle weakness, Muscular dystrophy, Myopathy, Neonatal hypotonia, Nocturnal hypoventilation, Oromandibular dystonia, Pes valgus, Postural tremor, Progressive proximal muscle weakness, Protruding ear, Proximal amyotrophy, Proximal muscle weakness, Recurrent lower respiratory tract infections, Reduced muscle collagen VI, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Round face, Scoliosis, Short neck, Skeletal muscle atrophy, Slender build, Slender finger, Spinal rigidity, Talipes equinovarus, Torticollis, Type 1 muscle fiber predominance, Upper limb postural tremor, Wrist hypermobility, Writer's cramp, obsolete Congenital muscular dystrophy, obsolete Joint laxity

impaired skeletal muscle contractility, increased collagen deposition in the muscles, increased exploration in new environment, increased variability of skeletal muscle fiber size, skeletal muscle interstitial fibrosis, vision/eye phenotype