Global Variome shared LOVD

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

Phenotype #0000351633 Individual ID 00466250 Associated disease MSUD Diagnosis/Initial maple syrup urine disease Diagnosis/Definite MSUD1B Phenotype details classic MSUD with rapid deterioration and admission to NICU for 30 days. EMS was done at the age of 14 days, and was diagnostic for MSUD. No history of hospital readmission for metabolic decompensation from diagnosis till now. Inheritance Familial, autosomal recessive Age/Examination 4.0y Age/Diagnosis - Age/Onset 7d 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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