Choking episodes, Congenital hip dislocation, Cyanosis, Decreased fetal movement, Delayed ability to walk, Delayed myelination, Difficulty walking, Diplopia, Distal amyotrophy, Distal lower limb muscle weakness, Dysphagia, Dysphonia, Dyspnea, EEG with polyspike wave complexes, EMG: impaired neuromuscular transmission, EMG: myopathic abnormalities, Easy fatigability, Encephalopathy, Episodic respiratory distress, Esotropia, Fatigable weakness, Feeding difficulties, Frequent falls, Frontalis muscle weakness, Gastroesophageal reflux, Generalized muscle weakness, Global developmental delay, Hepatomegaly, High palate, Hyporeflexia, Intellectual disability, Intermittent episodes of respiratory insufficiency due to muscle weakness, Irritability, Kyphoscoliosis, L-2-hydroxyglutaric aciduria, Limb-girdle muscle weakness, Long face, Low-set ears, Macrocephaly, Microcephaly, Microretrognathia, Motor delay, Motor polyneuropathy, Muscle fiber atrophy, Muscle weakness, Narrow jaw, Nasal regurgitation, Nasal speech, Neck muscle weakness, Nystagmus, Obstructive sleep apnea, Ophthalmoplegia, Pectus carinatum, Pes cavus, Polyhydramnios, Poor eye contact, Poor head control, Poor suck, Proximal muscle weakness, Ptosis, Recurrent respiratory infections, Respiratory arrest, Respiratory insufficiency, Seizure, Sensorineural hearing impairment, Severe muscular hypotonia, Spinal deformities, Spinal rigidity, Staring gaze, Stridor, Sudden episodic apnea, Ventriculomegaly, Waddling gait, Weak cry, obsolete Central hypotonia, obsolete Joint laxity, obsolete Toe walking

preweaning lethality, complete penetrance