ORPHA:97685
17q11 microdeletion syndrome
Also called Del(17)(q11), Monosomy 17q11, NF1 microdeletion syndrome, Neurofibromatosis type 1 microdeletion syndrome
- Body system
- Skin diseases
- Inheritance pattern
- Not applicable
- Typical age of onset
- Antenatal, Infancy, Neonatal
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:97685 is classified under "Skin diseases" in the Orphanet nomenclature.
Common signs
- Reduced social responsiveness
- Short attention span
- Freckling
- Multiple cafe-au-lait spots
- Abnormality of the face
- Progressive visual loss