Global Variome shared LOVD

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Phenotype #0000161691 Individual ID 00213216 Associated disease CMS Phenotype details 0d-multiple joint contractures; neonate-weak suck/cry, poorly weight gain; 6m and later minor respiratory infections, increased weakness, respiratory distress requiring ventilation, mild eyelid ptosis, mild weakness cervical torso/limb muscles, excercise-induced fatigue Diagnosis/Initial myasthenic syndrome, congenital Inheritance Isolated (sporadic) Diagnosis/Definite CMS-11 Age/Examination - Age/Diagnosis - Age/Onset 0d Phenotype/Onset - 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 12:10:30 +01:00 (CET) Date last edited 2012-03-09 19:59:12 +01:00 (CET)

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