Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual...

Oculo-respiratory syndrome Oculoauricular syndrome Oculocerebrocutaneous syndrome Oculocerebrorenal syndrome Oculofaciocardiodental syndrome Oculomucocutaneous...

ceroid lipofuscinosis Noonan syndrome Nystagmus Ochoa syndrome Oculocerebrorenal syndrome Oligodactyly Pallister–Killian syndrome Pancreaticobiliary maljunction...

syndrome with hypopigmentation Oculocerebrocutaneous syndrome Oculocerebrorenal syndrome Oculocutaneous albinism immunodeficiency Oculocutaneous albinism...

dwarfism dysgammaglobulinemia Lowe–Kohn–Cohen syndrome Lowe oculocerebrorenal syndrome Lowe syndrome Lower limb anomaly ureteral obstruction Lower limb deficiency...

Alport's syndrome, Conradi's syndrome, cerebrotendineous xanthomatosis, myotonic dystrophy, and oculocerebrorenal syndrome or Lowe syndrome.[citation...

(nephrolithiasis type 2) is associated with the OCRL gene. Both Lowe syndrome (oculocerebrorenal syndrome) and Dent disease can be caused by truncating or missense...

Mclnnes, Roderick R.; Nussbaum, Robert L. (July 1992). "The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol...

Inositol polyphosphate 5-phosphatase OCRL-1, also known as Lowe oculocerebrorenal syndrome protein, is an enzyme encoded by the OCRL gene located on the...

football coach Charles Upton Lowe (1921-2012), for whom Oculocerebrorenal syndrome or Lowe syndrome was named Charles Upton, High Sheriff of Derbyshire in...

actor and director Charles Upton Lowe, physician, discoverer of oculocerebrorenal syndrome Charles Lowe (judge), judge of the Supreme Court of Victoria Charles...

syndrome MeSH C18.452.100.100.540 – Menkes kinky hair syndrome MeSH C18.452.100.100.545 – MERRF syndrome MeSH C18.452.100.100.640 – oculocerebrorenal...

MeSH C16.131.077.661 – oculocerebrorenal syndrome MeSH C16.131.077.677 – orofaciodigital syndromes MeSH C16.131.077.703 – POEMS syndrome MeSH C16.131.077.730...

140.163.100.545 – merrf syndrome MeSH C10.228.140.163.100.640 – oculocerebrorenal syndrome MeSH C10.228.140.163.100.650 – ornithine carbamoyltransferase...

815.647 – hypophosphatemia, familial MeSH C12.777.419.815.720 – oculocerebrorenal syndrome MeSH C12.777.419.815.770 – pseudohypoaldosteronism MeSH C12.777...

in some patients with hypomelanosis of Ito, some forms of Lowe's (oculocerebrorenal) disease, or some of the mucopolysaccharidoses. Often with VWM, the...