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Summary
HYPEROXALURIA, PRIMARY III, PH3
613616
OMIM = Online Medalian Inheritance of Men
93600
10q24.2
rare
autosomal recessive
symptoms
cardiomyopathy
failure to thrive
growth retardation
infections (urinary tract)
nephrocalcinosis
optic atrophy
pain, bones or joints
renal dysfunction
renal failure, acute/chronic
urolithiasis
laboratory finding
Oxalate increasedurineall
Literature