17q11 microdeletion syndrome

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

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Aliases

• 17q11 microdeletion syndrome
• chromosome 17q11.2 deletion syndrome
• chromosome 17q11.2 deletion syndrome, 1.4-MB
• chromosome 17q11.2 deletion syndrome, 1.4Mb
• Del(17)(q11)
• Monosomy 17q11
• monosomy 17q11
• neurofibromatosis 1 microdeletion syndrome
• Neurofibromatosis type 1 microdeletion syndrome
• neurofibromatosis type 1 microdeletion syndrome
• NF1 microdeletion syndrome
• NF1 microduplication syndrome
• Van Asperen syndrome