Congenital hip dislocation, Cyanosis, Decreased fetal movement, Delayed ability to walk, Delayed speech and language development, 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, Episodic respiratory distress, Esotropia, Fatigable weakness, Feeding difficulties, Frontalis muscle weakness, Gastroesophageal reflux, Generalized muscle weakness, High palate, Hyporeflexia, Intellectual disability, Intermittent episodes of respiratory insufficiency due to muscle weakness, Knee flexion contracture, Kyphoscoliosis, Limb-girdle muscle weakness, Long face, Low-set ears, Microretrognathia, Motor delay, Motor polyneuropathy, Muscle fiber atrophy, Muscle weakness, Narrow jaw, Nasal regurgitation, Nasal speech, Neck muscle weakness, Nystagmus, Obstructive sleep apnea, Oculomotor apraxia, Ophthalmoplegia, Pectus carinatum, Pes cavus, Polyhydramnios, Poor head control, Poor suck, Proximal muscle weakness, Ptosis, Recurrent respiratory infections, Respiratory arrest, Respiratory insufficiency, Seizure, Sensorineural hearing impairment, Spinal deformities, Spinal rigidity, Staring gaze, Stridor, Sudden episodic apnea, Waddling gait, Weak cry, obsolete Central hypotonia, obsolete Joint laxity, obsolete Toe walking

obstructive hydrocephaly, reduced sympathetic cervical ganglion size, retroesophageal right subclavian artery, small superior cervical ganglion, subcutaneous edema