Global Variome shared LOVD

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Phenotype #0000161722 Individual ID 00213247 Associated disease CMS Phenotype details childhood most wheelchair; 10y-2 corrective surgeries scolliosis; 18y-ptosis, moderate facial weakness (normal pupil and extraocular responses), moderate weakness proximal limbs (normal deep tendon refelexes) Diagnosis/Initial myasthenic syndrome, congenital Inheritance Unknown Diagnosis/Definite CMS-11 Age/Examination - Age/Diagnosis - Age/Onset 0d Phenotype/Onset birth-very hypotonic, very weak breathing/crying; first weeks required tracheotomy, mechanical ventilation, gastrostomy tube feeding 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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