Global Variome shared LOVD

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Phenotype #0000284040 Individual ID 00390503 Associated disease MDDG Phenotype details limb-girdle muscular dystrophy; 1y4m-walk, 3y-run; no contractures; no intellectual disability; no seizures; CK level 2919 IU/L; EMG myogenic; ECG-normal; UCG-normal Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 3y6m (3 years, 6 months) Age/Diagnosis - Age/Onset 1y4m Phenotype/Onset motor milestones delay Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-11-10 16:44:31 +01:00 (CET) Date last edited N/A

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