Cerebral edema, Coma, Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial respiratory chain, Decreased activity of the pyruvate dehydrogenase complex, Developmental regression, Diabetes mellitus, Dysarthria, Dyskinesia, Dystonia, Emotional lability, Encephalopathy, Exercise intolerance, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Fetal distress, Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense brainstem lesion, Generalized hypotonia, Global developmental delay, Growth delay, Hearing impairment, Hepatic failure, Hepatomegaly, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Hypotonia, Increased CSF lactate, Increased circulating lactate concentration, Increased serum pyruvate, Intellectual disability, severe, Intrauterine growth retardation, Lactic acidosis, Lethargy, Leukodystrophy, Leukoencephalopathy, Microcephaly, Mitochondrial myopathy, Muscle weakness, Nystagmus, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Optic neuropathy, Paroxysmal involuntary eye movements, Peripheral neuropathy, Pigmentary retinopathy, Poor head control, Progressive cerebellar ataxia, Progressive macrocephaly, Progressive spastic paraplegia, Proximal tubulopathy, Ptosis, Reduced eye contact, Respiratory insufficiency, Seizure, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Ventricular septal defect, Vomiting

abnormal motor capabilities/coordination/movement, abnormal nest building behavior, abnormal neuron physiology, abnormal olfactory bulb external plexiform layer morphology, abnormal pre-Botzinger complex physiology, abnormal pulmonary ventilation, abnormal respiratory electron transport chain, abnormal sensory capabilities/reflexes/nociception, abnormal skin appearance, axonal spheroids, behavior/neurological phenotype, brain vacuoles, brainstem hemorrhage, circling, decreased aggression, decreased body length, decreased body size, decreased grooming behavior, decreased locomotor activity, decreased pulmonary respiratory rate, decreased startle reflex, decreased vocalization, environmentally induced seizures, focal hair loss, head tilt, hunched posture, hyporesponsive to tactile stimuli, impaired balance, impaired righting response, impaired swimming, increased circulating carnitine level, integument phenotype, limb grasping, microgliosis, nervous system phenotype, neuron degeneration, no abnormal phenotype detected, oxidative stress, positive geotaxis, premature death, premature hair loss, retropulsion, spongiform encephalopathy, straub tail, tail dragging, trunk curl