Phenotype #0000106744 - Global Variome shared LOVD

Global Variome shared LOVD

TBX18 (T-box 18)

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

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Phenotype #0000106744

Individual ID	00133995
Associated disease	MD
Phenotype details	severe; white crystallin trace of thymidine residuals; 25y-FVC 0.50; no intellectual disability (-HP:0001249); 7y-inable to walk (HP:0002540); 6y-inable to walk; 6y-inable to sit
Diagnosis/Initial	muscular dystrophy, Duchenne-like
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	4y7m
Phenotype/Onset	-
Protein	WB SGCG/SGCA/SGCB/SGCD absent
Owner name	Elena Popescu
Database submission license	No license selected
Created by	Elena Popescu
Date created	2010-03-30 19:36:48 +02:00 (CEST)
Date last edited	2012-03-09 19:32:06 +01:00 (CET)

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