Phenotype #0000161707

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00213232
Associated disease	CMS
Phenotype details	fluctuating ptosis, facial or bulbar weakness, generalized weakness, episodic crisis
Diagnosis/Initial	myasthenic syndrome, congenital
Inheritance	Unknown
Diagnosis/Definite	CMS-11
Age/Examination	-
Age/Diagnosis	-
Age/Onset	20y
Phenotype/Onset	double vision
Protein	-
Owner name	Angela Abicht
Database submission license
Created by	Johan den Dunnen
Date created	2011-11-05 12:10:30 +01:00 (CET)
Date last edited	2017-03-31 14:13:45 +02:00 (CEST)

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