Phenotype #0000161714

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00213239
Associated disease	CMS
Phenotype details	fluctuating ptosis, facial or bulbar weakness, generalized weakness, dysmorphic features, episodic crisis with signs of respiratory insufficiency, delayed motor milestones
Diagnosis/Initial	myasthenic syndrome, congenital
Inheritance	Unknown
Diagnosis/Definite	CMS-11
Age/Examination	-
Age/Diagnosis	-
Age/Onset	<1m
Phenotype/Onset	feeding difficulties, arthrogryposis multiplex
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	2013-02-01 19:44:12 +01:00 (CET)

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