Phenotype #0000325408

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	00435206
Associated disease	GD1
Phenotype details	splenomegaly, hepatomegaly
Diagnosis/Initial	Gaucher disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	GD1
Age/Examination	14y (14 years)
Age/Diagnosis	-
Age/Onset	02y06m
Phenotype/Onset	-
Protein	-
Owner name	Jimena Urbano
Database submission license
Created by	Jimena Urbano
Date created	2023-06-07 16:21:15 +02:00 (CEST)
Date last edited	2023-06-13 22:42:27 +02:00 (CEST)

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