Global Variome shared LOVD

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

Phenotype #0000351652 Individual ID 00466269 Associated disease MSUD Diagnosis/Initial maple syrup urine disease Diagnosis/Definite MSUD2 Phenotype details poor feeding and convulsions at presentation, later follow up moderate developmental delay; MSUD deceased sib Inheritance Familial, autosomal recessive Age/Examination 8y (8 years) Age/Diagnosis 3d Age/Onset - 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 2025-08-13 09:58:04 +02:00 (CEST) Date last edited N/A

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