Basal ganglia calcification, Cataract, Central scotoma, Centrocecal scotoma, Cerebellar atrophy, Cognitive impairment, Color vision defect, Corpus callosum atrophy, Decreased nerve conduction velocity, Dementia, Diabetes mellitus, Duane anomaly, Dysmetria, Dysphagia, Fatigue, Feeding difficulties, Gait disturbance, Global developmental delay, Hallucinations, Hamstring contractures, Hemiparesis, Horizontal nystagmus, Hyperreflexia, Hypogonadism, Hypothyroidism, Impaired pain sensation, Increased variability in muscle fiber diameter, Intellectual disability, Macrocytic anemia, Migraine, Moderately reduced visual acuity, Morning glory anomaly, Motor delay, Myalgia, Myopathy, Nystagmus, Ophthalmoplegia, Optic atrophy, Pallor, Peripheral neuropathy, Pes cavus, Polyneuropathy, Progressive external ophthalmoplegia, Progressive sensorineural hearing impairment, Progressive spasticity, Progressive visual loss, Proximal muscle weakness, Ptosis, Red-green dyschromatopsia, Reduced tendon reflexes, Reduced visual acuity, Scapular winging, Seizure, Sensorimotor neuropathy, Sensorineural hearing impairment, Skeletal muscle atrophy, Spastic paraplegia, Spasticity, Strabismus, Temporal optic disc pallor, Tremor, Tritanomaly, Visual impairment, Weakness of facial musculature

abnormal mitochondrial physiology, abnormal mitophagy, abnormal muscle fiber morphology, abnormal pancreatic beta cell morphology, abnormal pancreatic beta cell physiology, abnormal respiratory electron transport chain, abnormal response to new environment, abnormal retina ganglion cell morphology, abnormal retina nerve fiber layer morphology, abnormal rostral-caudal axis patterning, abnormal sarcomere morphology, abnormal sciatic nerve morphology, abnormal somite shape, deafness, decreased embryo size, decreased heart weight, decreased insulin secretion, decreased mitochondrial DNA content, decreased oxygen consumption, decreased pancreatic beta cell proliferation, decreased retina ganglion cell number, decreased somite size, decreased susceptibility to age related obesity, disorganized mitochondrial cristae, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, embryonic lethality, complete penetrance, hearing/vestibular/ear phenotype, homeostasis/metabolism phenotype, incomplete embryo turning, increased circulating glucose level, increased creatine level, increased mitochondrial size, increased or absent threshold for auditory brainstem response, limb grasping, muscle phenotype, reproductive system phenotype, retina ganglion cell degeneration, small pancreatic islets, thin retina inner plexiform layer