Phenotype #0000330074

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	00440179
Associated disease	GD
Diagnosis/Initial	Gaucher disease
Diagnosis/Definite	GD1
Phenotype details	see paper; ..., mild hepatomegaly, cytopenia; 40y-splenectomy
Inheritance	Familial, autosomal recessive
Age/Examination	40y (40 years)
Age/Diagnosis	38y
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-30 10:19:13 +01:00 (CET)
Date last edited	N/A

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