Phenotype #0000207398

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00269572
Associated disease	CPN1D
Phenotype details	see paper; ..., angioedema occurring once weekly, attacks lasted 24h and most often involved face and tongue, but sometimes large regions of pruritic red swellings on trunk or limbs
Diagnosis/Initial	carboxypeptidase N deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	65y (65 years)
Age/Diagnosis	-
Age/Onset	54y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-11-30 13:58:16 +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.