Global Variome shared LOVD

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Phenotype #0000348114 Individual ID 00460390 Associated disease NF Phenotype details see paper; ..., fulfills NIH criteria (also when excluding family history); 6 or more café-au-lait macules; freckling ; Lisch nodules; plexiform neurofibroma head/neck, arm; cutaneous neurofibroma; subcutaenous neurofibroma; pectus carinatum; normal development; UAB-R629 was reported to have a schwannoma in the atecubital fossa, however no details, including the histological confirmation, was provided Diagnosis/Initial neurofibromatosis Inheritance Unknown 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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