Cerebellar atrophy, Cerebral atrophy, Cholangitis, Cholestasis, Chronic lactic acidosis, Cirrhosis, Coarse hair, Cognitive impairment, Decreased activity of mitochondrial respiratory chain, Decreased liver function, Decreased mitochondrial complex III activity in liver tissue, Decreased transferrin saturation, Depression, Dry hair, Dysarthria, Dystonia, EEG abnormality, Elevated circulating hepatic transaminase concentration, Elevated hepatic iron concentration, Emotional lability, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Gliosis, Global developmental delay, Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Hallucinations, Hearing impairment, Hemiplegia/hemiparesis, Hepatic steatosis, Hepatocellular necrosis, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hypogonadism, Hypotonia, Increased CSF lactate, Increased circulating ferritin concentration, Increased circulating lactate concentration, Increased serum iron, Increased serum pyruvate, Intellectual disability, Intrauterine growth retardation, Lactic acidosis, Metabolic acidosis, Microvesicular hepatic steatosis, Mitochondrial encephalopathy, Muscle weakness, Neonatal hypotonia, Nystagmus, Ophthalmoplegia, Optic atrophy, Pigmentary retinopathy, Pili torti, Progressive ophthalmoplegia, Progressive spastic paraplegia, Psychomotor retardation, Ptosis, Ragged-red muscle fibers, Renal Fanconi syndrome, Respiratory insufficiency, Rhabdomyolysis, Rod-cone dystrophy, Seizure, Sensorineural hearing impairment, Spasticity, Strabismus, Tubulointerstitial nephritis, obsolete Hypotrichosis

decreased Leydig cell number, decreased circulating glucose level, decreased embryo size, decreased liver glycogen level, decreased locomotor activity, embryonic growth arrest, embryonic lethality prior to organogenesis, embryonic lethality, complete penetrance, failure of primitive streak formation, failure to gastrulate, hunched posture, increased circulating alanine transaminase level, increased circulating alkaline phosphatase level, increased circulating citrulline level, increased circulating lactate level, increased macrophage cell number, increased mitochondrial size, increased neutrophil cell number, microvesicular hepatic steatosis, premature death, preweaning lethality, complete penetrance, slow postnatal weight gain, small liver