Phenotype #0000337676

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00448487
Associated disease	HAE1;HAE2
Phenotype details	Proband presenting with a HAE type 1 phenotype. Whole gene deletion was associated with a severe course of disease. The patients had early onset of symptoms (from 1 to 5 years of age), developed from 8 to 27 attacks per year with laryngeal phenotype.
Diagnosis/Initial	-
Inheritance	Familial
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Christian Drouet
Database submission license
Created by	Christian Drouet
Date created	2024-03-13 17:01:24 +01:00 (CET)
Date last edited	N/A

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