Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000333264 Individual ID 00444007 Associated disease DMD Phenotype details elevated CK level 8751 (IU/L); 8y-wheelchair bound; difficulty in walking, prone to falls, Gowers sign, gross and fine motor skill delay, inferior flaccid paresis Diagnosis/Initial DMD Inheritance Unknown Diagnosis/Definite DMD Age/Examination 8y (8 years) Age/Onset 4y Phenotype/Onset - Age/Diagnosis - Protein IHC DMD dys2 negative Owner name Rusdy Ghazali Malueka Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-12-11 09:22:03 +01:00 (CET) Date last edited N/A

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