Global Variome shared LOVD

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Phenotype #0000348125 Individual ID 00460401 Associated disease NF Phenotype details see paper; ..., does not fulfill NIH criteria; 6 or more café-au-lait macules; no freckling; no Lisch nodules; no plexiform neurofibroma; no cutaneous neurofibroma; no subcutaenous neurofibroma; no skeletal abnormalities; normal development; mother 42y-multiple café-au-lait maculess, c.889-7324A>G positive Diagnosis/Initial neurofibromatosis Inheritance Familial, autosomal dominant Diagnosis/Definite NF1 Age/Examination 5y-8y 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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