Oculocerebrorenal syndrome

Overview
Oculocerebrorenal syndrome (also called Lowe syndrome) is a X-linked recessive disorder characterized by hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets.

It is associated with the gene OCRL.

Eponym
It is named for Charles Upton Lowe.