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17q11 microdeletion syndrome

Disease definition

17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.

ORPHA:97685

  • Synonym(s):
    • Del(17)(q11)
    • Monosomy 17q11
    • NF1 microdeletion syndrome
    • Neurofibromatosis type 1 microdeletion syndrome
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q85.0
  • OMIM: 613675
  • UMLS: C3150928
  • MeSH: -
  • GARD: 5408
  • MedDRA: -

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