Global Variome shared LOVD

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Phenotype #0000351643 Individual ID 00466260 Associated disease MSUD Diagnosis/Initial maple syrup urine disease Diagnosis/Definite MSUD2 Phenotype details classic MSUD with deterioration to coma and admission to NICU with ventilation. No history of hospital readmission for metabolic decompensation from diagnosis till now. Inheritance Familial, autosomal recessive Age/Examination 5.5y 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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