Global Variome shared LOVD

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Phenotype #0000346101 Individual ID 00457642 Associated disease ? Diagnosis/Initial long-chain fatty acid oxidation disorder Diagnosis/Definite ACADVLD Phenotype details see paper; ..., exercise intolerance, muscle pain; abnormal muscle power during neurological exam, limb-girdle weakness MRC grade 4 Inheritance Familial, autosomal recessive Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-11-15 14:14:44 +01:00 (CET) Date last edited N/A

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