Phenotype #0000185614

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00245745
Associated disease	HAE1;HAE2
Phenotype details	Homozygous proband presenting with a mild HAE type II phenotype, heterozygotes are asymptomatic; c.[-21T>C];[-21T>C] might be a condition responsible for the disease
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Christian Drouet
Database submission license
Created by	Christian Drouet
Date created	2019-07-06 10:20:58 +02:00 (CEST)
Date last edited	2021-08-08 19:29:48 +02:00 (CEST)

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