Phenotype #0000351647

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466264
Associated disease	MSUD
Diagnosis/Initial	maple syrup urine disease
Diagnosis/Definite	MSUD1A
Phenotype details	acute encephalopathy and intractable seizures at presentation, later follow up psychomotor retardation, axial hypotonia, brain atrophy
Inheritance	Familial, autosomal recessive
Age/Examination	5y5m (5 years, 5 months)
Age/Diagnosis	20d
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-08-13 09:58:04 +02:00 (CEST)
Date last edited	N/A

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