Global Variome shared LOVD

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Phenotype #0000356260 Individual ID 00471417 Associated disease SWNTS Diagnosis/Initial schwannomatosis Diagnosis/Definite SWNTS2 Phenotype details see paper; ..., C5-C6 spinal schwannomas histologically confirmed, L parasternal schwannoma and L popliteal thigh schwannoma, posterior thigh schwannoma; 41y-no evidence of VS ; asymptomatic carrier father (67y) Inheritance Unknown Age/Examination 42y (42 years) Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-12-22 17:15:00 +01:00 (CET) Date last edited N/A

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