17q11 microdeletion syndrome
Synonyms: Del(17)(q11) | Monosomy 17q11 | NF1 microdeletion syndrome | Neurofibromatosis type 1 microdeletion syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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17q11 microdeletion syndrome?
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