Global Variome shared LOVD

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Phenotype #0000284037 Individual ID 00390500 Associated disease MDDG Phenotype details limb-girdle muscular dystrophy; 6m-sit, 2y-walk, run; no contractures; autistic syndrome; no seizures; CK level 7027-11681 IU/L; ECG-normal; UCG-normal Diagnosis/Initial limb-girdle muscular dystrophy, mental retardation Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 3y9m (3 years, 9 months) Age/Diagnosis - Age/Onset 5m 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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