Global Variome shared LOVD

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Phenotype #0000348098 Individual ID 00460374 Associated disease NF Phenotype details see paper; ..., fulfills NIH criteria (not when excluding family history); 6 or more café-au-lait macules; freckling (right groin); no Lisch nodules; plexiform neurofibroma trunk, right leg; no cutaneous neurofibroma; no subcutaenous neurofibroma; spinal neurofibroma (symptomatic); no skeletal abnormalities; learning disability; vena cava Diagnosis/Initial neurofibromatosis Inheritance Familial, autosomal dominant Diagnosis/Definite NF1 Age/Examination 14y-18y 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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