Phenotype #0000351632

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466249
Associated disease	MSUD
Diagnosis/Initial	maple syrup urine disease
Diagnosis/Definite	MSUD1B
Phenotype details	moderate; classic MSUD. He was normal till the age of 7 days. Then he developed poor suckling, lethargy, convulsions. EMS was done at the age of 60 days and was diagnostic for MSUD. The patient lost follow up after one year of age.
Inheritance	Familial, autosomal recessive
Age/Examination	2.0y
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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