Phenotype #0000231545

Global Variome shared LOVD

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

Individual ID	00305698
Associated disease	GSD
Phenotype details	62y-deceased; respiratory weakness; 58y-non-invasive ventilation;
Diagnosis/Initial	late-onset Pompe disease
Inheritance	Unknown
Diagnosis/Definite	GSD2
Age/Examination	62y (62 years)
Age/Diagnosis	60y
Age/Onset	-
Phenotype/Onset	respiratory weakness
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-07-01 13:40:43 +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.