ORPHA:363700
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Also called Von Recklinghausen disease due to NF1 mutation or intragenic deletion
- Body system
- Skin diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- Not documented in Orphadata
- Rarity class
- Not documented in Orphadata
ORPHA:363700 is classified under "Skin diseases" in the Orphanet nomenclature.
Common signs
- Hypertelorism
- Cafe-au-lait spot
- Proportionate tall stature
- Bone cyst
- Neurodevelopmental delay
- Inguinal freckling