Phenotype #0000351645

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466262
Associated disease	MSUD
Diagnosis/Initial	maple syrup urine disease
Diagnosis/Definite	MSUD2
Phenotype details	mild; asymptomatic classic MSUD that was diagnosed since birth by NBS program due to family history of previous sib death. She had no history of hospital readmission with metabolic crisis. Previous sib deaths due to late diagnosis of MSUD were at the age of 1.5 and 2 months, respectively.
Inheritance	Familial, autosomal recessive
Age/Examination	11.5y
Age/Diagnosis	-
Age/Onset	-
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