Global Variome shared LOVD

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Phenotype #0000276957 Individual ID 00383170 Associated disease DMD Phenotype details elevated CK level 12948 (IU/L); 10y-still ambulant; difficulty walking (HP:0002355), Waddling gait (HP:0002515), Gowers sign (HP:0003391), Global developmental delay (HP:0001263), Falls (HP:0002527) Diagnosis/Initial DMD Inheritance Isolated (sporadic) Diagnosis/Definite DMD Age/Examination - Age/Onset 07y Phenotype/Onset - Age/Diagnosis 10y Protein IHC DMD dys2 negative Owner name Rusdy Ghazali Malueka Database submission license Creative Commons Attribution 4.0 International Created by Rusdy Ghazali Malueka Date created 2021-09-26 14:51:49 +02:00 (CEST) Date last edited 2023-12-10 22:17:21 +01:00 (CET)

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