Decreased fetal movement, Decreased miniature endplate potentials, Difficulty walking, Diplopia, Distal amyotrophy, Distal lower limb muscle weakness, 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, Fatigable weakness, Feeding difficulties, Frontalis muscle weakness, Gastroesophageal reflux, Generalized hypotonia due to defect at the neuromuscular junction, Generalized muscle weakness, High palate, 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, Narrow jaw, Nasal regurgitation, Nasal speech, Neck muscle weakness, Nystagmus, Obstructive sleep apnea, Ophthalmoparesis, Ophthalmoplegia, Pectus carinatum, Pes cavus, Polyhydramnios, Poor head control, Poor suck, Proximal muscle weakness, Ptosis, Recurrent respiratory infections, Respiratory arrest, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizure, Sensorineural hearing impairment, Spinal deformities, Spinal rigidity, Staring gaze, Strabismus, Stridor, Sudden episodic apnea, Type 2 muscle fiber atrophy, Waddling gait, Weak cry, obsolete Central hypotonia, obsolete Joint laxity, obsolete Toe walking

abnormal skeletal muscle morphology, abnormal soleus morphology, abnormal synaptic acetylcholine release, abnormal tail morphology, behavior/neurological phenotype, carpoptosis, decreased fetal size, decreased locomotor activity, decreased vertical activity, increased acetylcholine level, increased motor neuron number, increased vertical activity, muscular atrophy, neonatal lethality, complete penetrance, nervous system phenotype, no abnormal phenotype detected, perinatal lethality, complete penetrance, postnatal lethality, complete penetrance, premature death, reproductive system phenotype, skeletal muscle endomysial fibrosis, skeletal muscle fiber atrophy, skeletal muscle fibrosis, tail dragging, thin diaphragm muscle, weakness