Phenotype #0000104308

Global Variome shared LOVD

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

Individual ID	00132115
Associated disease	CCHS
Phenotype details	Hirschsprung’s disease, ocular anomalies, total colon aganglionosis (TCA)
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Tiziana Bachetti
Database submission license
Created by	Johan den Dunnen
Date created	2017-10-23 19:16:34 +02:00 (CEST)
Date last edited	2017-10-24 17:44:57 +02:00 (CEST)

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