Global Variome shared LOVD

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Phenotype #0000284028 Individual ID 00390491 Associated disease MDDG Phenotype details limb-girdle muscular dystrophy; 1y3m-walk, run, 13y-cannot run, 23y-walking supported; contractures ankle; no intellectual disability; seizures; CK level 3585-5531 IU/L; ECG-right bundle branch block; UCG-normal Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 25y (25 years) Age/Diagnosis - Age/Onset 10y Phenotype/Onset fall down frequently 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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