Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the dentition, Abnormality of visual evoked potentials, Amaurosis fugax, 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, Blurred vision, Bulbar signs, Cachexia, Cardiac conduction abnormality, Carious teeth, Cataract, Central retinal vessel vascular tortuosity, Central scotoma, Centrocecal scotoma, Cerebral calcification, Cerebral cortical atrophy, Cerebral ischemia, Cerebral visual impairment, Chorea, Clonus, Cognitive impairment, Congestive heart failure, Constipation, Decreased nerve conduction velocity, Delayed puberty, Delayed skeletal maturation, Dementia, Demyelinating peripheral neuropathy, Depression, Developmental cataract, Developmental regression, Diabetes mellitus, Dilated cardiomyopathy, Dysarthria, Dyskinesia, Dysphagia, Dyspnea, Dystonia, EEG abnormality, EMG abnormality, Elevated circulating creatine kinase concentration, Encephalopathy, Episodic respiratory distress, Episodic vomiting, Failure to thrive, Fatigue, Feeding difficulties in infancy, Fever, Focal T2 hyperintense basal ganglia lesion, Gait ataxia, Gastroparesis, Generalized hirsutism, Generalized myoclonic seizure, Gingival overgrowth, Glomerulopathy, Goiter, Growth abnormality, Hallucinations, Heart block, Hemianopia, Hemiparesis, Hepatic failure, Hepatomegaly, Hyperalaninemia, Hypercalciuria, Hyperreflexia, Hypertelorism, Hypertension, Hyperthyroidism, Hypertrophic cardiomyopathy, Hyperventilation, Hypoparathyroidism, Hypopigmented skin patches, Hyporeflexia, Hypothermia, Hypothyroidism, Hypotonia, Ichthyosis, Increased CSF lactate, Increased circulating lactate concentration, Infantile muscular hypotonia, Infantile spasms, Intestinal obstruction, Lactic acidosis, Lacticaciduria, Leber optic atrophy, Left ventricular hypertrophy, Low plasma citrulline, Malabsorption, Mask-like facies, Memory impairment, Microcephaly, Migraine, Mitochondrial myopathy, Mitochondrial respiratory chain defects, Multiple glomerular cysts, Multiple lipomas, Muscle weakness, Myalgia, Myopathy, Nausea and vomiting, Nephrotic syndrome, Neurological speech impairment, Nyctalopia, Nystagmus, Ophthalmoparesis, Ophthalmoplegia, Optic atrophy, Optic neuropathy, Pancreatitis, Paresthesia, Peripheral neuropathy, Pigmentary retinopathy, Polyneuropathy, Postural tremor, Primary adrenal insufficiency, Progressive sensorineural hearing impairment, Proteinuria, Protruding ear, Psychotic episodes, Ptosis, Pulmonary arterial hypertension, Pulmonary embolism, Ragged-red muscle fibers, Reduced consciousness/confusion, Reduced tendon reflexes, Renal insufficiency, Respiratory insufficiency, Retinal telangiectasia, Retinal vascular tortuosity, Rod-cone dystrophy, Segmental peripheral demyelination/remyelination, Seizure, Sensorimotor neuropathy, Sensorineural hearing impairment, Severe global developmental delay, Short stature, Skeletal muscle atrophy, Slow decrease in visual acuity, Spasticity, Spontaneous hematomas, Stroke-like episode, Sudden cardiac death, Thyroiditis, Tremor, Type I diabetes mellitus, Type II diabetes mellitus, Ventricular preexcitation, Ventriculomegaly, Visual field defect, Visual impairment, Visual loss, Wolff-Parkinson-White syndrome

vision/eye phenotype