Phenotype #0000351593

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466211
Associated disease	?
Diagnosis/Initial	galactosemia
Diagnosis/Definite	GALAC3
Phenotype details	see paper; ..., galactosemia
Inheritance	Familial, autosomal recessive
Age/Examination	8y (8 years)
Age/Diagnosis	4m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-08-11 12:22:29 +02:00 (CEST)
Date last edited	N/A

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