Phenotype #0000330147

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00440252
Associated disease	GD
Diagnosis/Initial	Gaucher disease
Diagnosis/Definite	GD1
Phenotype details	splenomegaly
Inheritance	Familial, autosomal recessive
Age/Examination	20y (20 years)
Age/Diagnosis	-
Age/Onset	6y
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-31 14:24:06 +01:00 (CET)
Date last edited	N/A

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