Phenotype #0000207615

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00269824
Associated disease	HHT
Phenotype details	recurrent epistaxis, telangiectasia, visceral arteriovenous malformation, liver arteriovenous malformation, chronic HHT-related GI bleeding; family history
Diagnosis/Initial	telangiectasia
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	HHT-2
Age/Examination	70y (70 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-12-07 12:29:03 +01:00 (CET)
Date last edited	N/A

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