Global Variome shared LOVD

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Phenotype #0000333251 Individual ID 00443994 Associated disease DMD Phenotype details elevated CK level 10499 (IU/L); 10y-wheelchair bound; waddling gait, tiptoe walk, prone to falls, Gowers sign, gross motor skill delay, cardiomegaly, scoliosis, ankle deformity Diagnosis/Initial DMD Inheritance Unknown Diagnosis/Definite DMD Age/Examination 12y (12 years) Age/Onset 5y 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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