Phenotype #0000343323

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00454693
Associated disease	HAE
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	Female proband presenting with a HAE phenotype, without confirmation of a C1-INH function decrease in plasma
Inheritance	Familial, autosomal dominant
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Christian Drouet
Database submission license
Created by	Christian Drouet
Date created	2024-09-25 11:23:37 +02:00 (CEST)
Date last edited	N/A

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