Phenotype #0000185293

Individual ID 00245344
Associated disease HAE1;HAE2
Phenotype details Numerous pedigrees carrying a c.550G>A variant.
Probands presenting with a HAE type I.
A proband is presenting with a de novo mutation, Pappalardo 2000.
Diagnosis/Initial -
Inheritance Familial
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Christian Drouet
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Christian Drouet
Date created 2019-07-03 10:48:03 +02:00 (CEST)
Date last edited 2019-10-01 16:28:05 +02:00 (CEST)

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.