Global Variome shared LOVD

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Phenotype #0000356305 Individual ID 00471498 Associated disease DMD Phenotype details see paper; ..., delayed gross motor development, 10m-sit, 12m-crawl, 20m-walk, Gowers' sign, never ran; progressive calf muscle enlargement, poor weight gain, intermittent joint pain; failure to thrive weight 19 kg (<5th), height 118cm (10th); bilateral calf pseudohypertrophy; hypotonia, globally reduced deep tendon reflexes; elevated serum creatine kinase level 1200 IU/L Diagnosis/Initial Duchenne muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite BTHLM1A Age/Examination 04y (4 years) Age/Onset - Phenotype/Onset - Age/Diagnosis - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-12-24 15:07:32 +01:00 (CET) Date last edited N/A

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