Areflexia, Ataxia, Babinski sign, Brachydactyly, Bradykinesia, Broad foot, Broad nasal tip, Broad palm, Cerebral atrophy, Coarse facial features, Cognitive impairment, Cone-shaped capital femoral epiphysis, Coxa vara, Decreased nerve conduction velocity, Delayed CNS myelination, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Developmental regression, Diffuse cerebral atrophy, Distal muscle weakness, Distal sensory impairment, Elevated circulating creatine kinase concentration, Enlargement of the wrists, Fasciculations, Feeding difficulties in infancy, Flared iliac wing, Flattened epiphysis, Flexion contracture, Gait disturbance, Generalized hypotonia, Generalized muscle weakness, Global developmental delay, Hearing impairment, High palate, Horizontal nystagmus, Hyperreflexia, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplasia of the odontoid process, Hyporeflexia, Hypotonia, Impaired pain sensation, Increased CSF lactate, Increased circulating lactate concentration, Increased connective tissue, Increased serum pyruvate, Increased variability in muscle fiber diameter, Intellectual disability, Intellectual disability, progressive, Involuntary movements, Irritability, Kyphosis, Large knee, Leukoencephalopathy, Low anterior hairline, Low-set ears, Malar flattening, Metaphyseal chondrodysplasia, Metaphyseal cupping of metacarpals, Metaphyseal widening, Midface retrusion, Moderate global developmental delay, Morphological abnormality of the pyramidal tract, Motor axonal neuropathy, Muscle weakness, Optic disc pallor, Peg-like central prominence of distal tibial metaphyses, Peripheral neuropathy, Pes cavus, Platyspondyly, Polyneuropathy, Prominent sternum, Psychomotor retardation, Ragged-red muscle fibers, Reduced bone mineral density, Respiratory distress, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scoliosis, Seizure, Sensorimotor neuropathy, Sensorineural hearing impairment, Sensory axonal neuropathy, Sensory neuropathy, Severe muscular hypotonia, Short femoral neck, Short finger, Short neck, Short stature, Skeletal muscle atrophy, Sleep disturbance, Small epiphyses, Spastic paraplegia, Spondyloepimetaphyseal dysplasia, Tetraplegia, Thick eyebrow, Thin ribs, Thoracic kyphosis, Tinnitus, Tongue fasciculations, Tremor, Unsteady gait, Visual impairment, Visual loss, Widened subarachnoid space, Wormian bones, obsolete Central hypotonia, obsolete Toe walking

abnormal mitochondrial crista morphology, abnormal mitochondrial physiology, abnormal motor capabilities/coordination/movement, abnormal myocardial fiber morphology, abnormal myocardial fiber physiology, abnormal respiratory electron transport chain, abnormal response to cardiac infarction, abnormal seizure response to pharmacological agent, amacrine cell degeneration, behavior/neurological phenotype, cardiac hypertrophy, decreased birth weight, decreased body size, decreased brain size, decreased cardiac muscle contractility, decreased catalase activity, decreased embryo size, decreased mitochondrial fission, decreased neuron apoptosis, decreased skeletal muscle mass, decreased somite size, decreased susceptibility to neuronal excitotoxicity, dilated heart left ventricle, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, embryonic lethality, incomplete penetrance, enlarged myocardial fiber, focal hair loss, increased cardiomyocyte apoptosis, increased catalase activity, increased cellular sensitivity to hydrogen peroxide, increased circulating lactate level, increased embryonic tissue cell apoptosis, increased myocardial infarct size, increased neuron apoptosis, increased sensitivity to induced morbidity/mortality, increased skeletal muscle fiber diameter, increased superoxide dismutase level, lethality throughout fetal growth and development, incomplete penetrance, muscle degeneration, muscular atrophy, nervous system phenotype, oxidative stress, premature death, prenatal lethality, incomplete penetrance, retina ganglion cell degeneration, small cerebellum, thin cerebral cortex, thin retina inner plexiform layer, thin retina outer plexiform layer