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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
renal dysfunction
renal failure, acute/chronic
urolithiasis
laboratory finding
Oxalate increasedurineall
Literature