Phenotype #0000106743

Global Variome shared LOVD

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

Individual ID	00133994
Associated disease	MD
Phenotype details	white crystallin trace of thymidine residuals; 24y-FVC 0.62; 4y-inable to walk (HP:0002540); 4y-inable to walk
Diagnosis/Initial	muscular dystrophy, Duchenne-like
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	9m
Phenotype/Onset	-
Protein	WB no SGCG/SGCA/SGCB, SGCD reduced;IHC SGCD patchy
Owner name	Elena Popescu
Database submission license	No license selected
Created by	Elena Popescu
Date created	2010-03-30 18:46:19 +02:00 (CEST)
Date last edited	2012-03-04 15:57:57 +01:00 (CET)

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