Phenotype #0000161724

Individual ID 00213249
Associated disease CMS
Phenotype details 14y-instability to sustain upward gaze; 10y-acute respiratory insufficiency (during flu-like illness) required intubation/mechanical ventilation
Diagnosis/Initial myasthenic syndrome, congenital
Inheritance Unknown
Diagnosis/Definite CMS-11
Age/Examination -
Age/Diagnosis -
Age/Onset <0d
Phenotype/Onset 36w born cesarean section (breech presentation), acute respiratory insufficiency (1d intubation/mechanical ventilation; childhood intermittent ptosis, fatigability (during febrile illnesses)
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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