Global Variome shared LOVD

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Phenotype #0000161754 Individual ID 00213279 Associated disease CMS Phenotype details 45d-severe respiratory failure with apnea, bradycardia, hypotonia, required intubation mechanical ventilation; 4m-tracheostomy, gavage feeding due to severe swallowing disturbances; 10m-gastrostomy; 17m-tracheostomy tube removed; 35m gastrostomy removed; 21y-fatigability on exertion difficulties in running, ptosis when tired Diagnosis/Initial myasthenic syndrome, congenital Inheritance Isolated (sporadic) Diagnosis/Definite CMS-11 Age/Examination - Age/Diagnosis - Age/Onset 0d Phenotype/Onset severe generalized hypotonia, no sucking reflex, arthrogryposis hands/feets/hips 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 2012-03-09 20:00:23 +01:00 (CET)

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