Phenotype #0000161710

Individual ID 00213235
Associated disease CMS
Phenotype details fluctuating ptosis, facial or bulbar weakness, generalized weakness, episodic crisis with signs of respiratory insufficiency
Diagnosis/Initial myasthenic syndrome, congenital
Inheritance Unknown
Diagnosis/Definite CMS-11
Age/Examination -
Age/Diagnosis -
Age/Onset 2y
Phenotype/Onset apnea
Protein -
Owner name Angela Abicht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons 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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