Phenotype #0000116600

Individual ID 00143822
Associated disease ?
Diagnosis/Initial myasthenic syndrome, congenital
Diagnosis/Definite CMS-9
Phenotype details neonatal hypotonia, respiratory failure, vocal cord paralysis, required tracheostomy; 1.5y-died
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2011-02-13 09:54:08 +01:00 (CET)
Date last edited 2012-03-09 18:55:42 +01:00 (CET)

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