Decreased activity of the pyruvate dehydrogenase complex, Decreased fetal movement, Dysarthria, Dystonia, Emotional lability, Encephalopathy, Failure to thrive, Focal T2 hyperintense basal ganglia lesion, Generalized hypotonia, Gliosis, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hepatic steatosis, Hepatocellular necrosis, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypotonia, Increased CSF lactate, Increased circulating lactate concentration, Intellectual disability, Intellectual disability, severe, Lactic acidosis, Leukodystrophy, Microcephaly, Nystagmus, Ophthalmoplegia, Optic atrophy, Peripheral neuropathy, Pigmentary retinopathy, Progressive cerebellar ataxia, Progressive ophthalmoplegia, Progressive spastic paraplegia, Psychomotor retardation, Ptosis, Respiratory insufficiency, Seizure, Sensorineural hearing impairment, Spasticity, Strabismus, Ventricular septal defect

increased physiological sensitivity to xenobiotic, increased sensitivity to xenobiotic induced morbidity/mortality, increased variability of skeletal muscle fiber size, no abnormal phenotype detected, preweaning lethality, complete penetrance