Phenotype #0000161774

Individual ID 00213299
Associated disease CMS
Phenotype details 16m-normal cognition, bilateral ptosis, normal ocular movements, mild facial/proximal limb weakness
Diagnosis/Initial myasthenic syndrome, congenital
Inheritance Unknown
Diagnosis/Definite CMS-11
Age/Examination -
Age/Diagnosis -
Age/Onset 0d
Phenotype/Onset hypotonic, required mechanical ventilation/gastric tube feeding
Protein -
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 2011-11-05 12:10:31 +01:00 (CET)
Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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