Phenotype #0000330008

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00440110
Associated disease	GD1
Phenotype details	see paper; ..., 9y-splenectomy; 10y-episodic bone pain, no fractures; 21y-massive hepatomegal, mild abnormalities function tests
Diagnosis/Initial	Gaucher disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	GD1
Age/Examination	21y (21 years)
Age/Diagnosis	03y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-28 09:12:50 +02:00 (CEST)
Date last edited	N/A

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