Global Variome shared LOVD

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Phenotype #0000351626 Individual ID 00466243 Associated disease MSUD Diagnosis/Initial maple syrup urine disease Diagnosis/Definite MSUD1B Phenotype details mild; intermediate form of the disease. He presented with delayed milestones of development at the age of 3.5 months associated with attacks of convulsions. Inheritance Familial, autosomal recessive Age/Examination 7.0y Age/Diagnosis - Age/Onset 105d 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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