Global Variome shared LOVD

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

Phenotype #0000351625 Individual ID 00466242 Associated disease MSUD Diagnosis/Initial maple syrup urine disease Diagnosis/Definite MSUD1B Phenotype details classic MSUD with rapid deterioration to coma and NICU admission with ventilation. He had one hospital readmission from diagnosis with protein deficiency till now. Inheritance Familial, autosomal recessive Age/Examination 1.8y 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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