Abnormality of eye movement, Abnormality of mitochondrial metabolism, Abnormality of movement, Abnormality of the cerebrospinal fluid, Abnormality of the extraocular muscles, Abnormality of the gastrointestinal tract, Abnormality of the hand, Abnormality of the liver, Abnormality of the mitochondrion, Abnormality of the orbital region, Abnormality of vision, Abnormality of visual evoked potentials, Absent Achilles reflex, Aciduria, Action tremor, Anemia, Anxiety, Areflexia, Arrhythmia, Astrocytosis, Ataxia, Atrial fibrillation, Atrophic muscularis propria, Atrophy/Degeneration involving the spinal cord, Behavioral abnormality, Bilateral sensorineural hearing impairment, Bilateral tonic-clonic seizure, Bile duct proliferation, Bipolar affective disorder, Blindness, Bradykinesia, Cachexia, Cardiomyopathy, Cataract, Cerebellar atrophy, Cerebral atrophy, Cerebral cortical neurodegeneration, Cerebral visual impairment, Choreoathetosis, Cirrhosis, Cognitive impairment, Cogwheel rigidity, Coma, 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, Dementia, Demyelinating peripheral neuropathy, Depression, Developmental regression, Diabetes mellitus, Diarrhea, Difficulty climbing stairs, Dilated cardiomyopathy, Diminished ability to concentrate, Distal muscle weakness, Distal sensory impairment, Dysarthria, Dyschromatopsia, Dysmetria, Dysphagia, Dysphonia, EMG: myopathic abnormalities, Easy fatigability, Edema, Elevated circulating creatine kinase concentration, Elevated circulating hepatic transaminase concentration, Emotional lability, Epilepsia partialis continua, Ethylmalonic aciduria, Exercise intolerance, Exertional dyspnea, External ophthalmoplegia, Facial diplegia, Facial palsy, Failure to thrive, Fatigue, Focal white matter lesions, Focal-onset seizure, Foot dorsiflexor weakness, Frequent falls, Gait ataxia, Gait disturbance, Gastroesophageal reflux, Gastrointestinal dysmotility, Gastroparesis, Generalized amyotrophy, Generalized hypotonia, Generalized muscle weakness, Gliosis, Global developmental delay, Glucose intolerance, Goiter, Hand muscle weakness, Hashimoto thyroiditis, Headache, Hearing impairment, Hepatic failure, Hepatomegaly, Hyperalaninemia, Hypergonadotropic hypogonadism, Hyperthyroidism, Hypogonadotropic hypogonadism, Hypomimic face, Hyporeflexia, Hypothyroidism, Hypotonia, Impaired distal proprioception, Impaired distal vibration sensation, Impaired vibratory sensation, Increased CSF protein, Increased circulating lactate concentration, Increased serum pyruvate, Increased variability in muscle fiber diameter, Intellectual disability, Intestinal pseudo-obstruction, Ketosis, Lactic acidosis, Left ventricular hypertrophy, Lethargy, Leukoencephalopathy, Limb ataxia, Limb dysmetria, Limb muscle weakness, Macrovesicular hepatic steatosis, Malabsorption, Malnutrition, Mask-like facies, Memory impairment, Microcephaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Migraine, Mildly elevated creatine kinase, Mitochondrial myopathy, Mitral regurgitation, Mitral valve prolapse, Multiple mitochondrial DNA deletions, Muscle fiber atrophy, Muscle fiber necrosis, Muscle spasm, Muscle stiffness, Myalgia, Myoclonus, Myopathy, Nausea, Neuronal loss in central nervous system, Nocturia, Nystagmus, Ophthalmoparesis, Ophthalmoplegia, Optic atrophy, Optic neuritis, Osteoporosis, Palpitations, Paralysis, Paraparesis, Paresthesia, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Peripheral axonal neuropathy, Peripheral neuropathy, Pes cavus, Poor appetite, Positive Romberg sign, Premature ovarian insufficiency, Primary amenorrhea, Progressive external ophthalmoplegia, Progressive gait ataxia, Progressive muscle weakness, Progressive spasticity, Proximal muscle weakness, Ptosis, Quadriceps muscle weakness, Ragged-red muscle fibers, Reduced ejection fraction, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Resting tremor, Rhabdomyolysis, Rigidity, ST segment elevation, Scapular winging, Secondary amenorrhea, Seizure, Sensorimotor neuropathy, Sensorineural hearing impairment, Sensory ataxic neuropathy, Sensory axonal neuropathy, Shoulder girdle muscle weakness, Shuffling gait, Skeletal muscle atrophy, Slender build, Small intestinal dysmotility, Spastic paraparesis, Spasticity, Status epilepticus, Steppage gait, Stooped posture, Subsarcolemmal accumulations of abnormally shaped mitochondria, Testicular atrophy, Tremor, Upgaze palsy, Ventricular arrhythmia, Vestibular dysfunction, Visual impairment, Visual loss, Vomiting, Weak voice, Weight loss

abnormal thymus involution, abnormal ultradian rhythm behavior, abnormal voluntary movement, behavior/neurological phenotype, cochlear ganglion degeneration, cochlear hair cell degeneration, cochlear outer hair cell degeneration, decreased circulating glucose level, decreased double-positive T cell number, decreased embryo size, decreased erythrocyte cell number, decreased food intake, decreased hemoglobin content, decreased immature B cell number, decreased mature B cell number, decreased noradrenaline level, decreased pre-B cell number, decreased pro-B cell number, decreased serotonin level, decreased skeletal muscle mass, decreased thymocyte number, dilated heart left ventricle, embryonic growth retardation, embryonic lethality between somite formation and embryo turning, complete penetrance, hypochromic macrocytic anemia, increased B cell derived lymphoma incidence, increased apoptosis, increased circulating lactate level, increased erythroblast number, increased fear-related response, increased heart weight, increased incidence of induced tumors, increased mitochondrial size, increased or absent threshold for auditory brainstem response, increased startle reflex, increased susceptibility to age-related hearing loss, integument phenotype, macrocytosis, oxidative stress, premature aging, premature death, premature hair loss, reduced female fertility, reduced male fertility, seminiferous tubule degeneration, stria vascularis degeneration