Phenotype #0000351615

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466232
Associated disease	MSUD
Diagnosis/Initial	maple syrup urine disease
Diagnosis/Definite	MSUD1A
Phenotype details	severe; classic MSUD with rapid deterioration to coma and NICU admission and ventilation for 55 days. He had history of frequent hospital readmission for metabolic decompensation.
Inheritance	Familial, autosomal recessive
Age/Examination	10.3y
Age/Diagnosis	-
Age/Onset	7d
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
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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