Phenotype #0000210876

Global Variome shared LOVD

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

Individual ID	00276286
Associated disease	MD
Phenotype details	hyper CKemia
Diagnosis/Initial	limb girdle muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD2B
Age/Examination	22y (22 years)
Age/Diagnosis	-
Age/Onset	19y
Phenotype/Onset	hyper CKemia
Protein	-
Owner name	Rumiko Izumi
Database submission license
Created by	Johan den Dunnen
Date created	2020-01-30 08:07:28 +01:00 (CET)
Date last edited	2020-05-02 18:18:20 +02:00 (CEST)

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