Global Variome shared LOVD

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Phenotype #0000284035 Individual ID 00390498 Associated disease MDDG Phenotype details limb-girdle muscular dystrophy; 1y-walk, 1y6m-run; no contractures; no intellectual disability; no seizures; CK level 1375-7992 IU/L; ECG-sinus arrhythmia; UCG mitral and tricuspid regurgitation (mild) Diagnosis/Initial congenital muscular dystrophy, mental retardation Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 10y10m (10 years, 10 months) Age/Diagnosis - Age/Onset 5y Phenotype/Onset hyperCKemia 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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