Phenotype #0000125876

Individual ID 00153171
Associated disease CMS
Phenotype details ptosis, limited eye movements, mild facial/limb weakness; 36y-marked bilateral ptosis, severe bilateral reduction eye abduction, fatigable weakness (more proximal then distal limb muscles); age onset early childhood
Diagnosis/Initial syndrome, myasthenic, congenital
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 36y (36 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset myasthenic symptoms
Protein no AChR antibodies
Owner name Angela Abicht
Database submission license No license selected
Created by Angela Abicht
Date created 2011-12-29 17:55:05 +01:00 (CET)
Date last edited 2012-03-09 18:26:59 +01:00 (CET)

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