Phenotype #0000253641

Global Variome shared LOVD

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

Individual ID	00335721
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	NF1;PFIC2;
Phenotype details	complex mixed phenotype of neurofibromatosis, cholestasis and failure to thrive caused by variants in 3 genes
Inheritance	Complex
Age/Examination	-
Age/Diagnosis	-
Age/Onset	00y09m
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-03-08 09:55:55 +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.