17q11 microdeletion syndrome
ORPHA:97685· ICD-10 Q85.0
Definition
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.
- Prevalence
- Unknown
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal