Distal amyotrophy, Distal muscle weakness, Dystonia, EMG: chronic denervation signs, Elevated circulating hepatic transaminase concentration, Failure to thrive, Foot dorsiflexor weakness, Gait disturbance, Generalized hypotonia, Global developmental delay, Hammertoe, Hepatic steatosis, Hepatomegaly, Hypoglycemia, Hyporeflexia, Hypotonia, Impaired distal tactile sensation, Increased CSF lactate, Increased susceptibility to fractures, Lactic acidosis, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Mildly elevated creatine kinase, Nystagmus, Osteomyelitis leading to amputation due to slow healing fractures, Pain insensitivity, Painless fractures due to injury, Peripheral axonal neuropathy, Pes cavus, Prolonged neonatal jaundice, Recurrent corneal erosions, Reye syndrome-like episodes, Sensorimotor neuropathy, Short stature, Ulnar claw, Vomiting

abnormal renal tubule morphology, abnormal scala media morphology, abnormal sebaceous gland morphology, cellular phenotype, cochlear ganglion degeneration, cochlear ganglion hypoplasia, cochlear outer hair cell degeneration, cortical renal glomerulopathies, decreased erythrocyte cell number, decreased hair follicle number, decreased hemoglobin content, decreased locomotor activity, decreased mitochondrial DNA content, decreased urine osmolality, dilated mitochondria, dilated renal tubules, fused podocyte foot processes, homeostasis/metabolism phenotype, increased circulating alanine transaminase level, increased circulating aspartate transaminase level, increased circulating creatinine level, increased circulating lactate level, increased heart weight, increased kidney weight, increased lean body mass, increased or absent threshold for auditory brainstem response, increased urine sodium level, kidney degeneration, liver/biliary system phenotype, organ of Corti degeneration, podocyte foot process effacement, premature death, renal glomerulus hypertrophy, sensorineural hearing loss, small sebaceous gland, spiral ligament degeneration, stria vascularis degeneration, thin epidermis