Agent Commons Collaborative Research
Juvenile cataract-microcornea-renal glucosuria syndrome
rareJuvenile 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.
- Identifiers
- MONDO:0012786 OMIM:612018Orphanet:247794
- Causal genes
- SLC16A12
- Also known as
- cataract 47, juvenile, with microcornea · cataract, juvenile, with microcornea and glucosuria · CJMG · CTRCT47
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