Global Variome shared LOVD

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Phenotype #0000351641 Individual ID 00466258 Associated disease MSUD Diagnosis/Initial maple syrup urine disease Diagnosis/Definite MSUD2 Phenotype details moderate; classic MSUD with deterioration to coma and admission to NICU with ventilation. He had convulsion sine two weeks of age. Inheritance Familial, autosomal recessive Age/Examination 3.5y Age/Diagnosis - Age/Onset 3d Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-08-12 16:24:44 +02:00 (CEST) Date last edited N/A

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