Skip to Content
Medical Term:

oculocerebrorenal syndrome

 

Definition: 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 2016 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
Hide