Phenotype #0000330024

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	00440126
Associated disease	GD
Diagnosis/Initial	Gaucher disease
Diagnosis/Definite	-
Phenotype details	see paper; ...,hepatosplenomegaly, mild pancytopenia, bony disease
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	47y
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-29 09:30:48 +01:00 (CET)
Date last edited	N/A

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