Phenotype #0000355607

Individual ID 00470713
Associated disease HAE4
Diagnosis/Initial -
Diagnosis/Definite HAE-nC1INH
Phenotype details Probands presenting with a HAE-nC1INH phenotype. Probably the 12 patients carrying a NM_000301.3:c.988A>G variant and recorded by Belbezier 2018 have been included in this study
Inheritance Familial
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Christian Drouet
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Christian Drouet
Date created 2025-12-05 18:07:20 +01:00 (CET)
Date last edited 2025-12-05 18:28:47 +01:00 (CET)

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.