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Medical Term:

oculocerebrorenal syndrome


a congenital syndrome with hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced ammonia production by the kidney, and vitamin D–resistant rickets; X-linked recessive inheritance, caused by mutation in the oculocerebrorenal gene (OCRL) on Xq.

Synonym(s): Lowe syndrome, Lowe-Terrey-MacLachlan syndrome

© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.