Phenotype #0000351616

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466233
Associated disease	MSUD
Diagnosis/Initial	maple syrup urine disease
Diagnosis/Definite	MSUD1A
Phenotype details	severe; classic MSUD with rapid deterioration and NICU admission. He required no ventilation. He was readmitted to hospital only two times during the first year with metabolic decompensation.
Inheritance	Familial, autosomal recessive
Age/Examination	8.3y
Age/Diagnosis	-
Age/Onset	10d
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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