Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000351640 Individual ID 00466257 Associated disease MSUD Diagnosis/Initial maple syrup urine disease Diagnosis/Definite MSUD2 Phenotype details severe; classic MSUD with deterioration and NICU admission and ventilation. He was diagnosed at the age of 2 month and started treatment. No available follow up after the age of 4 months. Inheritance Familial, autosomal recessive Age/Examination 1.3y Age/Diagnosis - Age/Onset 10d 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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