Global Variome shared LOVD

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Phenotype #0000362732 Individual ID 00478131 Associated disease ? Diagnosis/Initial exertional heat illness events Diagnosis/Definite - Phenotype details see paper; ..., one exertional heat illness events; collapsed, unresponsive ; peak core temperature 40.4; elevated creatine kinase level (peak at 400 UI/L) Inheritance Unknown Age/Examination 25y (25 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 2026-05-04 13:34:31 +02:00 (CEST) Date last edited N/A

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