Phenotype #0000330034

Global Variome shared LOVD

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

	Curator: Global Variome, with Curator vacancy

Individual ID	00440136
Associated disease	GD
Diagnosis/Initial	Gaucher disease
Diagnosis/Definite	-
Phenotype details	see paper; ..., no splenectomy, no bone involvement, severity score 7
Inheritance	Familial, autosomal recessive
Age/Examination	1
Age/Diagnosis	1y6m
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-29 13:39:41 +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.