17q11 microdeletion syndrome

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Name:
17q11 microdeletion syndrome
Description:
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.
ORPHAcode:
97685
Synonyms:
Del(17)(q11)
Monosomy 17q11
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14