Decreased fetal movement, Difficulty walking, Diplopia, Distal amyotrophy, Distal lower limb muscle weakness, Distal muscle weakness, Dysphagia, Dysphonia, EEG with polyspike wave complexes, EMG: impaired neuromuscular transmission, EMG: myopathic abnormalities, Easy fatigability, Episodic respiratory distress, Esotropia, Fatigable weakness, Feeding difficulties, Frontalis muscle weakness, Gait disturbance, Gastroesophageal reflux, Generalized muscle weakness, Hammertoe, Hearing impairment, 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, Ophthalmoplegia, Pectus carinatum, Pes cavus, Polyhydramnios, Poor head control, Poor suck, Proximal muscle weakness, Ptosis, Recurrent respiratory infections, Respiratory arrest, Seizure, Sensorineural hearing impairment, Skeletal muscle atrophy, Spinal deformities, Spinal rigidity, Staring gaze, Stridor, Sudden episodic apnea, Waddling gait, Weak cry, obsolete Central hypotonia, obsolete Joint laxity, obsolete Toe walking

lethality at weaning, complete penetrance, no abnormal phenotype detected