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Neurofibromatosis type 1

Orpha number ORPHA636
Synonym(s) NF1
Neurofibromatosis 1
Von Recklinghausen disease
Prevalence 1-5 / 10 000
  • Autosomal dominant
Age of onset Variable
  • Q85.0
  • C0027831
  • C538607
  • D009456
  • 10047712
  • 92824003


Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.

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Detailed information

Summary information
Practical genetics
  • EN (2007,pdf)
Article for general public
  • FR (2006,pdf)
Clinical genetics review
  • EN (2012)
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