Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

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 International 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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