Phenotype #0000351642

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466259
Associated disease	MSUD
Diagnosis/Initial	maple syrup urine disease
Diagnosis/Definite	MSUD2
Phenotype details	classic MSUD with rapid deterioration to coma and lengthy NICU admission with ventilation for 60 days. No history of hospital readmission for metabolic decompensation from diagnosis till now.
Inheritance	Familial, autosomal recessive
Age/Examination	7.5y
Age/Diagnosis	-
Age/Onset	4d
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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