Distal amyotrophy, Distal muscle weakness, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysmetric saccades, Dysphagia, Dystonia, EEG abnormality, Gait ataxia, Gaze-evoked nystagmus, Generalized myoclonic seizure, Head tremor, Increased intramyocellular lipid droplets, Intellectual disability, mild, Kinetic tremor, Limb ataxia, Limb dystonia, Lower limb hyperreflexia, Lower limb muscle weakness, Memory impairment, Muscle weakness, Myoclonus, Nystagmus, Oculomotor apraxia, Ophthalmoparesis, Parkinsonism, Peripheral axonal neuropathy, Ptosis, Rigidity, Sensorimotor neuropathy, Skeletal muscle atrophy, Slow saccadic eye movements, Spastic ataxia, Spastic dysarthria, Spastic paraparesis, Spasticity

abnormal mitochondrial ATP synthesis coupled electron transport, abnormal mitochondrial crista morphology, abnormal myelin sheath morphology, abnormal neuromuscular synapse morphology, abnormal respiratory electron transport chain, abnormal spinal cord lateral motor column morphology, abnormal spinal cord white matter morphology, cellular phenotype, decreased body size, decreased motor neuron number, decreased myelin sheath thickness, decreased neuron number, decreased skeletal muscle fiber size, decreased spinal cord size, growth/size/body region phenotype, impaired balance, impaired righting response, increased mitochondrial size, increased myelin sheath thickness, limb grasping, liver/biliary system phenotype, microgliosis, muscular atrophy, oxidative stress, postnatal lethality, complete penetrance, thin cerebellar granule layer, thin cerebellar molecular layer