Blepharophimosis, Bradykinesia, Bulbar palsy, Camptodactyly of finger, Cavum septum pellucidum, Central sleep apnea, Cerebellar hypoplasia, Choking episodes, Cleft palate, Congenital hip dislocation, Cryptorchidism, Cyanosis, Cystic hygroma, Dandy-Walker malformation, Decreased fetal movement, Depressed nasal bridge, Depressed nasal tip, Difficulty walking, Diplopia, Distal amyotrophy, Distal lower limb muscle weakness, Dysphagia, Dysphonia, EEG with polyspike wave complexes, EMG: impaired neuromuscular transmission, EMG: myopathic abnormalities, Easy fatigability, Elbow ankylosis, Episodic respiratory distress, Esotropia, Excessive daytime somnolence, Exercise intolerance, Facial palsy, Fatigable weakness, Fatigue, Feeding difficulties, Fetal akinesia sequence, Frontalis muscle weakness, Gastroesophageal reflux, Generalized amyotrophy, Generalized hypotonia, Generalized muscle weakness, High palate, High, narrow palate, Hydrocephalus, Hypertelorism, Hyporeflexia, Intellectual disability, Intermittent episodes of respiratory insufficiency due to muscle weakness, Intestinal hypoplasia, Intrauterine growth retardation, Knee flexion contracture, Kyphoscoliosis, Limb-girdle muscle weakness, Long face, Long philtrum, Low-set ears, Micrognathia, Microretrognathia, Motor delay, Motor polyneuropathy, Multiple joint contractures, Muscle fiber atrophy, Narrow jaw, Narrow mouth, Nasal regurgitation, Nasal speech, Neck muscle weakness, Nystagmus, Obstructive sleep apnea, Ophthalmoplegia, Pectus carinatum, Pes cavus, Polyhydramnios, Poor head control, Poor suck, Posteriorly rotated ears, Premature birth, Proptosis, Proximal muscle weakness, Pterygium, Ptosis, Pulmonary hypoplasia, Recurrent respiratory infections, Respiratory arrest, Respiratory insufficiency, Rocker bottom foot, Scoliosis, Seizure, Sensorineural hearing impairment, Short neck, Short palpebral fissure, Short umbilical cord, Slender long bone, Small for gestational age, Small placenta, Spinal deformities, Spinal rigidity, Staring gaze, Stridor, Sudden episodic apnea, Talipes equinovarus, Telecanthus, Thin ribs, Thoracic hypoplasia, Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers of the hand, Waddling gait, Weak cry, obsolete Central hypotonia, obsolete Joint laxity, obsolete Toe walking

impaired exercise endurance, increased acetylcholine level, increased motor neuron number, increased susceptibility to pharmacologically induced seizures, increased vertical activity, neonatal lethality, complete penetrance, skeletal muscle fiber atrophy