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17q11 microdeletion syndrome

Orpha number ORPHA97685
Synonym(s) Del(17)(q11)
Monosomy 17q11
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome
Prevalence Unknown
Inheritance -
Age of onset -
  • Q85.0
MeSH -
MedDRA -


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

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Detailed information

Practical genetics
  • EN (2007,pdf)
Clinical genetics review
  • EN (2012)
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