Phenotype #0000106215

Global Variome shared LOVD

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

Individual ID	00133468
Associated disease	BMD/DMD
Diagnosis/Initial	muscular dystrophy, Duchenne-like
Diagnosis/Definite	-
Phenotype details	clinical grade VII, walk tip-toe; <15y-inable to walk (HP:0002540)
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	8y
Phenotype/Onset	difficulty climbing stairs/running
Protein	IHC no SGCA, SGC weak, SSPN weak; WB SGCA trace
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2009-04-29 22:48:08 +02:00 (CEST)
Date last edited	2012-03-09 18:55:42 +01:00 (CET)

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