Phenotype #0000325449

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00435253
Associated disease	C1SD
Phenotype details	Proband presenting a complete C1s deficiency, with seizures and virus-associated hemophagocytic syndrome at age 4y; death at age 7y
Diagnosis/Initial	-
Inheritance	Familial
Diagnosis/Definite	-
Age/Examination	04y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Christian Drouet
Database submission license
Created by	Christian Drouet
Date created	2023-06-23 08:25:09 +02:00 (CEST)
Date last edited	2023-06-23 11:01:08 +02:00 (CEST)

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