Global Variome shared LOVD

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Phenotype #0000348101 Individual ID 00460377 Associated disease NF Phenotype details see paper; ..., fulfills NIH criteria (also when excluding family history); less then 6 café-au-lait macules; freckling (bilateral groin, bilateral axillary); no Lisch nodules; no plexiform neurofibroma; no cutaneous neurofibroma; no subcutaenous neurofibroma; MRI optic pathway glioma (symptomatic); no skeletal abnormalities; normal development 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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