Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual...
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Oculo-respiratory syndrome Oculoauricular syndrome Oculocerebrocutaneous syndrome Oculocerebrorenal syndrome Oculofaciocardiodental syndrome Oculomucocutaneous...
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ceroid lipofuscinosis Noonan syndrome Nystagmus Ochoa syndrome Oculocerebrorenal syndrome Oligodactyly Pallister–Killian syndrome Pancreaticobiliary maljunction...
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Inositol polyphosphate 5-phosphatase OCRL-1, also known as Lowe oculocerebrorenal syndrome protein, is an enzyme encoded by the OCRL gene located on the...
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(nephrolithiasis type 2) is associated with the OCRL gene. Both Lowe syndrome (oculocerebrorenal syndrome) and Dent disease can be caused by truncating or missense...
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syndrome with hypopigmentation Oculocerebrocutaneous syndrome Oculocerebrorenal syndrome Oculocutaneous albinism immunodeficiency Oculocutaneous albinism...
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dwarfism dysgammaglobulinemia Lowe–Kohn–Cohen syndrome Lowe oculocerebrorenal syndrome Lowe syndrome Lower limb anomaly ureteral obstruction Lower limb deficiency...
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Alport's syndrome, Conradi's syndrome, cerebrotendineous xanthomatosis, myotonic dystrophy, and oculocerebrorenal syndrome or Lowe syndrome.[citation...
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football coach Charles Upton Lowe (1921-2012), for whom Oculocerebrorenal syndrome or Lowe syndrome was named Charles Upton, High Sheriff of Derbyshire in...
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David L. Nelson (section Fragile X syndrome)
Mclnnes, Roderick R.; Nussbaum, Robert L. (July 1992). "The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol...
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