Phenotype #0000082014

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00104074
Associated disease	VWD2
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	-
Disease/Sub-type	type 2A
Diagnosis/Definite	-
Phenotype details	VWF:FVIIIB decreased
Protein	VWF:Ag 7; VWF:RCo <3; FVIII:C 22
Protein/Multimer_profile	Increased dimer (low res);? (unknown; high res)
BleedingScore	-
BleedingScore/Tool	-
Owner name	Daniel J Hampshire
Database submission license
Created by	Daniel J Hampshire
Date created	2017-05-12 10:00:24 +02:00 (CEST)
Date last edited	N/A

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