Phenotype #0000078469

Individual ID 00100232
Associated disease VWD2
Inheritance Familial, autosomal dominant
Diagnosis/Initial -
Disease/Sub-type type 2A
Diagnosis/Definite -
Phenotype details 2A(IIE)
Protein VWF:Ag 8; VWF:RCo 3; FVIII:C 22; VWF:CB 6; VWFpp 74
Protein/Multimer_profile Relative decrease in HMW (low res);Reduced/absent satellite bands (high res)
BleedingScore 13
BleedingScore/Tool MCMDM-1VWD
Owner name Daniel J Hampshire
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Daniel J Hampshire
Date created 2017-02-07 15:16:02 +01:00 (CET)
Date last edited N/A

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