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Oculocerebrorenal syndrome (also
called Lowe syndrome) is a rare X-linked
recessive disorder characterized by
congenital cataracts, hypotonia, intellectual...
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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...
- syndrome,
cerebrotendineous xanthomatosis,
myotonic dystrophy, and
oculocerebrorenal syndrome or Lowe syndrome. The skin and the lens have the same embryological...
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Neuronal ceroid lipofuscinosis Noonan syndrome Nystagmus Ochoa syndrome Oculocerebrorenal syndrome Oligodactyly Otocephaly Pallister–Killian
syndrome Pancreaticobiliary...
- Oculo-respiratory
syndrome Oculoauricular syndrome Oculocerebrocutaneous syndrome Oculocerebrorenal syndrome Oculofaciocardiodental syndrome Oculomucocutaneous syndrome...
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xylophone player Charles Upton Lowe (1921–2012), physician,
discoverer of
oculocerebrorenal syndrome Charles Lowe (judge) (1880–1969), longest-serving
judge on...
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Oculocerebral syndrome with
hypopigmentation Oculocerebrocutaneous syndrome Oculocerebrorenal syndrome Oculocutaneous albinism immunodeficiency Oculocutaneous albinism...
- (nephrolithiasis type 2) is ****ociated with the OCRL gene. Both Lowe
syndrome (
oculocerebrorenal syndrome) and Dent
disease can be
caused by
truncating or missense...
- in some
patients with
hypomelanosis of Ito, some
forms of Lowe's (
oculocerebrorenal) disease, or some of the mucopolysaccharidoses.
Often with VWM, the...
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weight dwarfism dysgammaglobulinemia Lowe–Kohn–Cohen
syndrome Lowe
oculocerebrorenal syndrome Lowe
syndrome Lower limb
anomaly ureteral obstruction Lower...
