• Thumbnail for Oculocerebrorenal syndrome
    Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual...
    8 KB (739 words) - 06:19, 16 November 2023
  • Oculo-respiratory syndrome Oculoauricular syndrome Oculocerebrocutaneous syndrome Oculocerebrorenal syndrome Oculofaciocardiodental syndrome Oculomucocutaneous...
    42 KB (4,070 words) - 17:09, 1 October 2024
  • ceroid lipofuscinosis Noonan syndrome Nystagmus Ochoa syndrome Oculocerebrorenal syndrome Oligodactyly Pallister–Killian syndrome Pancreaticobiliary maljunction...
    4 KB (357 words) - 13:01, 28 September 2024
  • Thumbnail for OCRL
    Inositol polyphosphate 5-phosphatase OCRL-1, also known as Lowe oculocerebrorenal syndrome protein, is an enzyme encoded by the OCRL gene located on the...
    8 KB (1,047 words) - 23:33, 29 November 2023
  • Thumbnail for Dent's disease
    (nephrolithiasis type 2) is associated with the OCRL gene. Both Lowe syndrome (oculocerebrorenal syndrome) and Dent disease can be caused by truncating or missense...
    12 KB (1,239 words) - 17:28, 19 September 2024
  • syndrome with hypopigmentation Oculocerebrocutaneous syndrome Oculocerebrorenal syndrome Oculocutaneous albinism immunodeficiency Oculocutaneous albinism...
    10 KB (818 words) - 01:37, 27 October 2023
  • dwarfism dysgammaglobulinemia Lowe–Kohn–Cohen syndrome Lowe oculocerebrorenal syndrome Lowe syndrome Lower limb anomaly ureteral obstruction Lower limb deficiency...
    10 KB (900 words) - 15:15, 1 April 2022
  • Thumbnail for Cataract
    Alport's syndrome, Conradi's syndrome, cerebrotendineous xanthomatosis, myotonic dystrophy, and oculocerebrorenal syndrome or Lowe syndrome.[citation...
    64 KB (6,615 words) - 21:45, 26 August 2024
  • football coach Charles Upton Lowe (1921-2012), for whom Oculocerebrorenal syndrome or Lowe syndrome was named Charles Upton, High Sheriff of Derbyshire in...
    532 bytes (100 words) - 06:07, 24 August 2019
  • Mclnnes, Roderick R.; Nussbaum, Robert L. (July 1992). "The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol...
    33 KB (2,388 words) - 13:29, 4 January 2024