Global Variome shared LOVD

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Phenotype #0000346096 Individual ID 00457637 Associated disease ? Diagnosis/Initial long-chain fatty acid oxidation disorder Diagnosis/Definite CPT2D Phenotype details see paper; ..., muscle pain (after exercise); normal muscle power during neurological exam Inheritance Familial, autosomal recessive Age/Examination 43y (43 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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