cataract, juvenile, with microcornea and glucosuria

cataract, juvenile, with microcornea and glucosuria

A rare inherited condition (OMIM:612018) characterised by juvenile cataract with microcornea and renal glucosuria. 

Molecular pathology
Caused by defects of SLC16A12, which encodes a putative transporter highly expressed in the eye and kidney that catalyses the transmembrane transport of monocarboxylates .
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