Abnormal renal tubule morphology, Abnormal speech pattern, Abnormal tubulointerstitial morphology, Amaurosis fugax, Aminoaciduria, Anemia, Anorexia, Anterior hypopituitarism, Anxiety, Aortic aneurysm, Aortic dissection, Aphasia, Aplasia/Hypoplasia of the cerebellum, Apnea, Arrhythmia, Arthrogryposis multiplex congenita, Ataxia, Attention deficit hyperactivity disorder, Autism, Bilateral sensorineural hearing impairment, Bilateral tonic-clonic seizure, Cachexia, Carious teeth, Cataract, Cerebral calcification, Cerebral cortical atrophy, Cerebral ischemia, Cerebral visual impairment, Clonus, Cognitive impairment, Congestive heart failure, Constipation, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Decreased nerve conduction velocity, Delayed puberty, Delayed skeletal maturation, Dementia, Depression, Developmental cataract, Developmental regression, Diabetes mellitus, Dysarthria, Dystonia, EEG abnormality, Elevated circulating creatine kinase concentration, EMG abnormality, Encephalopathy, Episodic vomiting, Exercise intolerance, Exertional dyspnea, Failure to thrive, Fatigue, Feeding difficulties in infancy, Fever, Gastroparesis, Generalized hirsutism, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Glomerulopathy, Glycosuria, Goiter, Growth abnormality, Hallucinations, Heart block, Hemianopia, Hemiparesis, Hepatomegaly, High palate, Hypercalciuria, Hyperphosphaturia, Hypertelorism, Hypertension, Hyperthyroidism, Hypertrophic cardiomyopathy, Hypoparathyroidism, Hypopigmented skin patches, Hypothyroidism, Hypotonia, Ichthyosis, Increased circulating lactate concentration, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Intellectual disability, Intestinal obstruction, Lactic acidosis, Left ventricular hypertrophy, Leukoencephalopathy, Malabsorption, Mask-like facies, Memory impairment, Microcephaly, Migraine, Mitochondrial myopathy, Motor delay, Multiple lipomas, Muscle weakness, Myalgia, Myopathy, Nausea and vomiting, Nephrotic syndrome, Nyctalopia, Ophthalmoparesis, Ophthalmoplegia, Optic atrophy, Pancreatitis, Paresthesia, Peripheral neuropathy, Pigmentary retinopathy, Primary adrenal insufficiency, Progressive sensorineural hearing impairment, Proteinuria, Protruding ear, Psychotic episodes, Ptosis, Pulmonary arterial hypertension, Pulmonary embolism, Ragged-red muscle fibers, Reduced consciousness, Reduced tendon reflexes, Renal Fanconi syndrome, Renal insufficiency, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Seizure, Sensorineural hearing impairment, Short stature, Skeletal muscle atrophy, Spontaneous hematomas, Stroke-like episode, Sudden cardiac death, Thyroiditis, Tremor, Type I diabetes mellitus, Type II diabetes mellitus, Ventriculomegaly, Visual field defect, Visual impairment, Weakness of facial musculature, Wolff-Parkinson-White syndrome