Abdominal symptom, Abnormal axial skeleton morphology, Abnormal CNS myelination, Abnormal glucose homeostasis, Abnormality of acid-base homeostasis, Abnormality of blood glucose concentration, Abnormality of body weight, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of cell physiology, Abnormality of central motor function, Abnormality of coordination, Abnormality of eye movement, Abnormality of fluid regulation, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of mitochondrial metabolism, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of skull size, 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 cerebrum, Abnormality of the ear, Abnormality of the eye, Abnormality of the forebrain, Abnormality of the fundus, Abnormality of the head, Abnormality of the heart, Abnormality of the hindbrain, Abnormality of the inner ear, Abnormality of the liver, Abnormality of the lung, Abnormality of the metencephalon, Abnormality of the mitochondrion, Abnormality of the musculature, Abnormality of the myocardium, Abnormality of the nervous system, Abnormality of the optic nerve, Abnormality of the peripheral nervous system, Abnormality of the posterior segment of the eye, Abnormality of the respiratory system, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of vision, Abnormal mitochondria in muscle tissue, Abnormal muscle tone, Acidosis, Acute encephalopathy, Acute necrotizing encephalopathy, All, Amyotrophy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cardiomyopathy, Cerebral edema, Cognitive impairment, Coma, Decreased body weight, Decreased liver function, Edema, Encephalopathy, Exercise intolerance, Failure to thrive, Functional abnormality of the inner ear, Functional motor problems., Functional respiratory abnormality, Global developmental delay, Gonosomal inheritance, Growth abnormality, Hearing abnormality, Hearing impairment, Hepatic failure, Hyperreflexia, Hypertonia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Macrocephaly, Malformation of the heart and great vessels, Mitochondrial inheritance, Mode of inheritance, Morphological abnormality of the central nervous system, Muscle weakness, Muscular hypotonia, Nausea and vomiting, Nystagmus, Onset and clinical course, Optic disc pallor, Phenotypic abnormality, Phenotypic variability, Progressive macrocephaly, Ptosis, Reduced consciousness/confusion, Reduced tendon reflexes, Respiratory insufficiency, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus, Visual impairment, Vomiting, X-linked dominant inheritance, X-linked inheritance.