Decreased fetal movement, Diplopia, Distal amyotrophy, Distal lower limb muscle weakness, Distal muscle weakness, Dysphagia, Dysphonia, Easy fatigability, EEG with polyspike wave complexes, EMG: impaired neuromuscular transmission, EMG: myopathic abnormalities, Episodic respiratory distress, Esotropia, Fatigable weakness, Feeding difficulties, Frontalis muscle weakness, Gait disturbance, Gastroesophageal reflux, Generalized muscle weakness, Hammertoe, Hearing impairment, High palate, Hypernasal speech, 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, Neck muscle weakness, Neuropathic spinal arthropathy, Nystagmus, obsolete Central hypotonia, obsolete Difficulty walking, obsolete Joint laxity, obsolete Toe walking, 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 rigidity, Staring gaze, Stridor, Sudden episodic apnea, Waddling gait, Weak cry

lethality at weaning, complete penetrance, no abnormal phenotype detected