Phenotype #0000351646

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466263
Associated disease	MSUD
Diagnosis/Initial	maple syrup urine disease
Diagnosis/Definite	MSUD2
Phenotype details	severe; classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had three hospital readmissions with metabolic crisis from diagnosis till now.
Inheritance	Familial, autosomal recessive
Age/Examination	5.8y
Age/Diagnosis	-
Age/Onset	5d
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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