Abnormality of the gastrointestinal tract, Abnormality of the hand, Abnormality of the liver, Abnormality of the mitochondrion, Abnormality of the spinocerebellar tracts, Absent Achilles reflex, Aminoaciduria, Anemia, Anterior hypopituitarism, Anxiety, Areflexia of lower limbs, Arrhythmia, Ataxia, Atrial fibrillation, Atrophic muscularis propria, Basal ganglia calcification, Bilateral ptosis, Bipolar affective disorder, Bradykinesia, Cachexia, Cardiomyopathy, Cataract, Cerebellar atrophy, Cerebral visual impairment, Cirrhosis, Cognitive impairment, Cogwheel rigidity, Constipation, Cytochrome C oxidase-negative muscle fibers, Decreased motor nerve conduction velocity, Decreased muscle mass, Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Deficit in phonologic short-term memory, Delayed skeletal maturation, Dementia, Demyelinating peripheral neuropathy, Depression, Diabetes mellitus, Diarrhea, Difficulty climbing stairs, Dilated cardiomyopathy, Distal muscle weakness, Dysarthria, Dysphagia, EMG abnormality, EMG: myopathic abnormalities, Easy fatigability, Edema, Elevated circulating creatine kinase concentration, Elevated circulating hepatic transaminase concentration, Esotropia, Exercise intolerance, Exercise-induced myalgia, Exertional dyspnea, External ophthalmoplegia, Facial diplegia, Facial palsy, Failure to thrive, Fatigable weakness of respiratory muscles, Fatigue, Feeding difficulties, Focal white matter lesions, Foot dorsiflexor weakness, Frequent falls, Gait ataxia, Gait disturbance, Gait imbalance, Gastroesophageal reflux, Gastrointestinal dysmotility, Gastroparesis, Generalized hypotonia, Glaucoma, Glucose intolerance, Goiter, Hearing impairment, Hemiplegia/hemiparesis, High palate, Hyperalaninemia, Hypergonadotropic hypogonadism, Hyperthyroidism, Hypogonadotropic hypogonadism, Hypomimic face, Hypoparathyroidism, Hyporeflexia, Hypothyroidism, Hypotonia, Increased CSF protein, Increased circulating lactate concentration, Increased muscle fatiguability, Intellectual disability, Ketosis, Lactic acidosis, Left ventricular hypertrophy, Lethargy, Leukoencephalopathy, Limb dysmetria, Limb muscle weakness, Loss of ability to walk, Macrovesicular hepatic steatosis, Microcephaly, Migraine, Mitochondrial myopathy, Multiple mitochondrial DNA deletions, Muscle spasm, Muscle weakness, Myalgia, Myopathy, Nausea, Neck flexor weakness, Nocturia, Ophthalmoparesis, Ophthalmoplegia, Osteoporosis, Palpitations, Paresthesia, Peripheral axonal neuropathy, Peripheral neuropathy, Pigmentary retinopathy, Poor appetite, Primary adrenal insufficiency, Progressive external ophthalmoplegia, Progressive intervertebral space narrowing, Progressive neurologic deterioration, Proximal tubulopathy, Psychomotor deterioration, Ptosis, Quadriceps muscle weakness, Ragged-red muscle fibers, Reduced ejection fraction, Reduced tendon reflexes, Renal Fanconi syndrome, Renal tubular acidosis, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Resting tremor, Rigidity, Scoliosis, Seizure, Sensorimotor neuropathy, Sensorineural hearing impairment, Sensory neuropathy, Short stature, Shoulder girdle muscle weakness, Sideroblastic anemia, Skeletal muscle atrophy, Small intestinal dysmotility, Spasticity, Third degree atrioventricular block, Tremor, Ventricular arrhythmia, Visual impairment, Vomiting, Weakness of facial musculature, Weight loss

abnormal renal glomerulus basement membrane morphology, abnormal renal glomerulus morphology, abnormal renal tubule epithelium morphology, abnormal renal tubule morphology, abnormal sciatic nerve morphology, abnormal submandibular gland morphology, cardiac fibrosis, cortical renal glomerulopathies, decreased circulating alkaline phosphatase level, decreased circulating glucose level, decreased glomerular capillary number, decreased hematocrit, decreased hemoglobin content, decreased lean body mass, decreased spleen white pulp amount, dilated renal tubules, increased circulating creatinine level, increased glomerular capsule space, increased kidney apoptosis, increased kidney cell proliferation, increased renal glomerulus basement membrane thickness, increased renal tubule apoptosis, liver/biliary system phenotype, muscular atrophy, pale kidney, podocyte foot process effacement, podocyte hypertrophy, premature death, proximal convoluted tubule brush border loss, renal/urinary system phenotype, slow postnatal weight gain, spleen atrophy, thymus atrophy, thymus cortex hypoplasia