Phenotype #0000351623

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466240
Associated disease	MSUD
Diagnosis/Initial	maple syrup urine disease
Diagnosis/Definite	MSUD1B
Phenotype details	classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had one hospital readmission with metabolic crisis from diagnosis till now.
Inheritance	Familial, autosomal recessive
Age/Examination	2.5y
Age/Diagnosis	-
Age/Onset	7d
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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