Global Variome shared LOVD

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Phenotype #0000238514 Individual ID 00314712 Associated disease LGMD Phenotype details normal psychomotor development; 9y-clinical weakness pelvic girdle, tiptoe walking, slight lumbar hyperlordosis, difficulty walking on heels, positive Gower's sign, elevated CK level (6426 UI/L); no seizures Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2A Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset 09y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-10-14 19:25:53 +02:00 (CEST) Date last edited N/A

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