Phenotype #0000330076

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00440181
Associated disease	GD
Diagnosis/Initial	Gaucher disease
Diagnosis/Definite	GD3
Phenotype details	see paper; ..., neuronopathic; hepatosplenomegaly, thrombocytopenia, leukopenia, abdominal pain over area spleen, fatigue, myoclonic epilepsy, and intellectual deterioration since childhood
Inheritance	Familial, autosomal recessive
Age/Examination	22y (22 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-30 11:08:10 +01:00 (CET)
Date last edited	N/A

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