Abnormal glucose homeostasis, Abnormality of acid-base homeostasis, Abnormality of amino acid metabolism, Abnormality of blood and blood-forming tissues, Abnormality of body weight, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of carboxylic acid metabolism, Abnormality of central motor function, Abnormality of coordination, Abnormality of erythrocytes, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle physiology, Abnormality of renal physiology, Abnormality of renal resorption, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebrospinal fluid, Abnormality of the ear, Abnormality of the eye, Abnormality of the fundus, Abnormality of the genitourinary system, Abnormality of the heart, Abnormality of the hindbrain, Abnormality of the inner ear, Abnormality of the kidney, Abnormality of the liver, Abnormality of the lung, Abnormality of the metencephalon, Abnormality of the musculature, Abnormality of the myocardium, Abnormality of the nervous system, Abnormality of the optic nerve, Abnormality of the posterior segment of the eye, Abnormality of the renal tubule, Abnormality of the respiratory system, Abnormality of the retina, Abnormality of the upper urinary tract, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine glucose concentration, Abnormality of urine homeostasis, Abnormal muscle tone, Abnormal urine anion concentration, Acidosis, Aciduria, All, Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Cardiomyopathy, Cognitive impairment, Decreased activity of cytochrome C oxidase in muscle tissue, Decreased body weight, Diminished movement, Exercise intolerance, Exertional dyspnea, Failure to thrive, Functional abnormality of the inner ear, Functional motor problems., Functional respiratory abnormality, Global developmental delay, Glycosuria, Growth abnormality, Hearing abnormality, Hearing impairment, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Hypokinesia, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Lipid accumulation in hepatocytes, Malformation of the heart and great vessels, Mitochondrial inheritance, Mode of inheritance, Morphological abnormality of the central nervous system, Motor delay, Muscle abnormality related to mitochondrial dysfunction, Muscle weakness, Muscular hypotonia, Optic atrophy, Phenotypic abnormality, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory difficulties, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment, Visceromegaly, Weakness of muscles of respiration.