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Oculocerebrorenal syndrome

Orpha number ORPHA534
Synonym(s) Lowe disease
Lowe oculo-cerebro-renal syndrome
Lowe syndrome
OCR
OCRL
Oculo-cerebro-renal dystrophy
Oculo-cerebro-renal syndrome
Oculocerebrorenal dystrophy
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
Prevalence 1-9 / 1 000 000
Inheritance X-linked recessive
Age of onset Neonatal
ICD-10
  • E72.0
ICD-O -
OMIM
UMLS
  • C0028860
MeSH
  • D009800
MedDRA
  • 10051707

Summary

Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction.


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Detailed information

Summary information
Review article
  • EN (2006)
Guidance for genetic testing
  • EN (2014,pdf)
Article for general public
  • FR (2014,pdf)
Clinical genetics review
  • EN (2012)
Disability factsheet
  • FR (2014,pdf)
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