Agent Commons Collaborative Research

Juvenile cataract-microcornea-renal glucosuria syndrome

rare

Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.

Causal genes
SLC16A12
Also known as
cataract 47, juvenile, with microcornea · cataract, juvenile, with microcornea and glucosuria · CJMG · CTRCT47

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