Congenital contracture, Cryptorchidism, Downslanted palpebral fissures, Downturned corners of mouth, Dysarthria, Facial hemangioma, Feeding difficulties, Flexion contracture, Gastroesophageal reflux, High palate, Hyporeflexia, Hypotonia, Inability to walk, Intellectual disability, Intellectual disability, mild, Kyphoscoliosis, Low-set ears, Malignant hyperthermia, Microcephaly, Micrognathia, Midface retrusion, Motor delay, Multiple skeletal anomalies, Muscle fiber atrophy, Muscle weakness, Myopathic facies, Progressive congenital scoliosis, Ptosis, Reduced tendon reflexes, Respiratory insufficiency, Short palpebral fissure, Short stature, Skeletal muscle atrophy, Submucous cleft soft palate, Talipes equinovarus, Telecanthus, Ventriculomegaly, obsolete Joint laxity, obsolete Restrictive deficit on pulmonary function testing

abnormal phrenic nerve innervation pattern to diaphragm, abnormal postnatal growth/weight/body size, abnormal sarcomere morphology, abnormal skeletal muscle morphology, abnormal skeleton development, abnormal spine curvature, abnormal sternum morphology, abnormal tongue muscle morphology, abnormal trochanter morphology, cardiovascular system phenotype, carpoptosis, decreased fetal weight, decreased skeletal muscle fiber number, decreased skeletal muscle mass, hypoxia, impaired skeletal muscle contractility, increased skeletal muscle fiber diameter, limp posture, neonatal lethality, complete penetrance, no spontaneous movement, primary atelectasis, thin diaphragm muscle, unresponsive to tactile stimuli