Phenotype #0000351595

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466213
Associated disease	?
Diagnosis/Initial	maple syrup urine disease
Diagnosis/Definite	MSUD2
Phenotype details	see paper; ..., maple syrup urine disease
Inheritance	Familial, autosomal recessive
Age/Examination	28y (28 years)
Age/Diagnosis	1y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-08-11 12:22:29 +02:00 (CEST)
Date last edited	N/A

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