Oculocerebrorenal syndrome
From Wikipedia, the free encyclopedia
OMIM | 309000 |
---|---|
DiseasesDB | 29146 |
eMedicine | oph/516 |
MeSH | D009800 |
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 OCRL.