Global Variome shared LOVD

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Phenotype #0000351595 Individual ID 00466213 Associated disease ? Diagnosis/Initial maple syrup urine disease Diagnosis/Definite MSUD2 Phenotype details see paper; ..., maple syrup urine disease Inheritance Familial, autosomal recessive Age/Examination 28y (28 years) Age/Diagnosis 1y 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 2025-08-11 12:22:29 +02:00 (CEST) Date last edited N/A

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