Global Variome shared LOVD

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Phenotype #0000359476 Individual ID 00474682 Associated disease ? Diagnosis/Initial hyperCKemia, myoedema Diagnosis/Definite - Phenotype details see paper; ..., focal myoedema (episodic, activity‐induced), myalgias, hyperCKemia, muscle fatigue, swelling; gastrointestinal hypomotility, ocular migraines, polycystic ovary syndrome Inheritance Unknown Age/Examination 24y (24 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-20 14:50:52 +01:00 (CET) Date last edited N/A

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