Congenital hip dislocation, Cyanosis, Decreased fetal movement, Difficulty walking, Diplopia, Distal amyotrophy, Distal lower limb muscle weakness, Dysarthria, Dysphagia, Dysphonia, Dystonia, EEG with polyspike wave complexes, EMG: impaired neuromuscular transmission, EMG: myopathic abnormalities, Easy fatigability, Episodic respiratory distress, Esotropia, Fatigable weakness, Feeding difficulties, Flexion contracture, Frontalis muscle weakness, Gait disturbance, Gastroesophageal reflux, Generalized amyotrophy, Generalized muscle weakness, High palate, Hyperreflexia, Hyporeflexia, Impaired proprioception, Impaired vibration sensation in the lower limbs, Intellectual disability, Intermittent episodes of respiratory insufficiency due to muscle weakness, Jerky head movements, Joint hypermobility, Kyphoscoliosis, Kyphosis, Leg muscle stiffness, Limb ataxia, Limb-girdle muscle weakness, Limited extraocular movements, Long face, Low-set ears, Lower limb spasticity, Memory impairment, Microretrognathia, Motor delay, Motor polyneuropathy, Muscle fiber atrophy, Myopathic facies, Myopathy, 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, Scoliosis, Seizure, Sensorineural hearing impairment, Severe muscular hypotonia, Slow saccadic eye movements, Spastic ataxia, Spastic dysarthria, Spastic gait, Spastic paraplegia, Spasticity, Spinal deformities, Spinal rigidity, Staring gaze, Strabismus, Stridor, Sudden episodic apnea, Supranuclear gaze palsy, Tremor, Waddling gait, Weak cry, obsolete Central hypotonia, obsolete Joint laxity, obsolete Toe walking