Global Variome shared LOVD

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Phenotype #0000348102 Individual ID 00460378 Associated disease NF Phenotype details see paper; ..., fulfills NIH criteria (also when excluding family history); 6 or more café-au-lait macules; freckling (bilateral groin, bilateral axillary); bilateral Lisch nodules; no plexiform neurofibroma; no cutaneous neurofibroma; no subcutaenous neurofibroma; scoliosis; normal development; hypertension 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 International 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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