Phenotype #0000092781

Global Variome shared LOVD

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

Individual ID	00081840
Associated disease	BMD/DMD
Diagnosis/Initial	BMD
Diagnosis/Definite	dystrophy, muscular, Becker type (BMD)
Phenotype details	mildly affected grandfather (70y); CK level 5219-8376 U/L
Inheritance	Familial, X-linked
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	2y
Phenotype/Onset	-
Protein	biopsy BMD
Owner name	Florencia Giliberto
Database submission license
Created by	Johan den Dunnen
Date created	2016-10-27 21:35:39 +02:00 (CEST)
Date last edited	2018-11-24 15:14:37 +01:00 (CET)

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