Phenotype #0000351603

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Johan den Dunnen

Individual ID	00466221
Associated disease	MSUD
Diagnosis/Initial	maple syrup urine disease
Diagnosis/Definite	MSUD2
Phenotype details	see paper; ..., intermittent episodes of ketoacidosis
Inheritance	Familial, autosomal recessive
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	02y
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-08-11 19:13:10 +02:00 (CEST)
Date last edited	N/A

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