Choking episodes, Congenital hip dislocation, Cyanosis, Decreased fetal movement, Decreased miniature endplate potentials, Decreased size of nerve terminals, Delayed gross motor development, Difficulty walking, Diplopia, Distal amyotrophy, Distal lower limb muscle weakness, Drowsiness, Dysphagia, Dysphonia, EEG with polyspike wave complexes, EMG: decremental response of compound muscle action potential to repetitive nerve stimulation, EMG: impaired neuromuscular transmission, EMG: myopathic abnormalities, Easy fatigability, Episodic respiratory distress, Esotropia, Exertional dyspnea, Facial palsy, Fatigable weakness, Fatigable weakness of neck muscles, Fatigable weakness of respiratory muscles, Feeding difficulties, Frontalis muscle weakness, Gastroesophageal reflux, Generalized muscle weakness, High palate, Hip flexor weakness, Hyporeflexia, Intellectual disability, Intermittent episodes of respiratory insufficiency due to muscle weakness, Kyphoscoliosis, Limb-girdle muscle weakness, Long face, Low-set ears, Microretrognathia, Motor delay, Motor polyneuropathy, Muscle fiber atrophy, Muscle weakness, Narrow chest, Narrow jaw, Nasal regurgitation, Nasal speech, Neck flexor weakness, Neck muscle weakness, Nystagmus, Obstructive sleep apnea, Ophthalmoparesis, Ophthalmoplegia, Orthopnea, Pectus carinatum, Pes cavus, Polyhydramnios, Poor head control, Poor suck, Proximal muscle weakness, Ptosis, Recurrent respiratory infections, Reduced tendon reflexes, Reduced vital capacity, Respiratory arrest, Respiratory insufficiency, Restrictive ventilatory defect, Scoliosis, Seizure, Sensorineural hearing impairment, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Spinal deformities, Spinal rigidity, Staring gaze, Stridor, Sudden episodic apnea, Thoracic kyphoscoliosis, Triceps weakness, Type 1 muscle fiber predominance, Upper limb muscle weakness, Waddling gait, Weak cry, Weakness of long finger extensor muscles, Weakness of the intrinsic hand muscles, obsolete Central hypotonia, obsolete Joint laxity, obsolete Toe walking

decreased CNS synapse formation, decreased body size, failure of neuromuscular synapse presynaptic differentiation, impaired limb coordination, increased post-tetanic potentiation, increased renal glomerulus basement membrane thickness, limb grasping, muscle phenotype, neonatal lethality, complete penetrance, nervous system phenotype, no abnormal phenotype detected, no spontaneous movement, perinatal lethality, complete penetrance, premature death, primary atelectasis, renal/urinary system phenotype