Phenotype #0000351636

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466253
Associated disease	MSUD
Diagnosis/Initial	maple syrup urine disease
Diagnosis/Definite	MSUD2
Phenotype details	severe; classic MSUD who was admitted to NICU on the seventh day for 2.5 months and was ventilated. At the age of 4 months, she was admitted to PICU, put on ventilator and was diagnosed as a patient of MSUD. She died at age of 6 months.
Inheritance	Familial, autosomal recessive
Age/Examination	0.5y
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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