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Summary
COENZYME Q DEFICIENCY 1
COENZYME Q 10 DEFICIENCY UBIQUINONE DEFICIENCY
607426
OMIM = Online Medalian Inheritance of Men
255249
4q21.22-q21.23
rare
autosomal recessive
symptoms
anemia
ataxia
cardiomyopathy
cardiomyopathy, hypertrophic
cerebral atrophy
encephalopathy
hearing defect, deafness
lactic acidosis
liver failure
mental retardation
muscle weakness
myopathy
onset, child
onset, infant
renal failure, acute/chronic
retinitis pigmentosa
seizures
laboratory finding
Literature