Global Variome shared LOVD

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

Phenotype #0000351651 Individual ID 00466268 Associated disease MSUD Diagnosis/Initial maple syrup urine disease Diagnosis/Definite MSUD2 Phenotype details moderate developmental delay, hypotonia, mild brain atrophy Inheritance Familial, autosomal recessive Age/Examination 5y5m (5 years, 5 months) Age/Diagnosis 3y 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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