Phenotype #0000306402

Global Variome shared LOVD

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

Individual ID	00414603
Associated disease	IMD
Phenotype details	see paper; ..., 5w-perirectal abscess, failure umbilical stump to involute; 5m-recurrent perirectal abscesses, infected urachal cyst, failure to heal surgical wounds, absence of pus in infected areas
Diagnosis/Initial	immunodeficiency
Inheritance	Isolated (sporadic)
Diagnosis/Definite	IMD73A
Age/Examination	01y (1 year)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-07-29 13:08:00 +02:00 (CEST)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.