Phenotype #0000348100

Individual ID 00460376
Associated disease NF
Phenotype details see paper; ..., fulfills NIH criteria (also when excluding family history); less then 6 cafĂ©-au-lait macules; 2-6 cutaneous neurofibroma; no skeletal abnormalities; normal development; breast cancer, symptomatic internal neurofibromas
Diagnosis/Initial neurofibromatosis
Inheritance Isolated (sporadic)
Diagnosis/Definite NF1
Age/Examination >18y (later than 18 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Owner name Ludwine Messiaen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-01-25 16:41:57 +01:00 (CET)
Date last edited N/A

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