Phenotype #0000159770

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00211288
Associated disease	CMS
Phenotype details	girdle weakness upper/lower, muscle weakness distal/axial, atrophy, no contractures, no scoliosis; walk-17m; CPK normal
Diagnosis/Initial	myasthenic syndrome, congenital
Inheritance	Unknown
Diagnosis/Definite	CMS-10
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	reduction fetal movements, neonatal respiratory failure, swallowing difficulties
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2011-11-28 23:06:23 +01:00 (CET)
Date last edited	2013-02-01 19:44:11 +01:00 (CET)

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