Global Variome shared LOVD

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Phenotype #0000284029 Individual ID 00390492 Associated disease MDDG Phenotype details limb-girdle muscular dystrophy; 1y6m-walk, 2-3y-run, 10y-cannot run; contractures ankle; no intellectual disability; no seizures; CK level 12017 IU/L; ECG-normal; UCG-normal Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset 9y3m Phenotype/Onset weakness lower limbs, abnormal walking gait 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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