Phenotype #0000078473

Individual ID 00100236
Associated disease VWD2
Inheritance Familial, autosomal dominant
Diagnosis/Initial -
Disease/Sub-type type 2A
Diagnosis/Definite -
Phenotype details 2A(IIE)
Protein VWF:Ag 14; VWF:RCo 13; FVIII:C 25; VWF:CB 7; VWFpp 68
Protein/Multimer_profile Relative decrease in HMW (low res);Reduced/absent satellite bands (high res)
BleedingScore 4
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 16:04:31 +01:00 (CET)
Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.