Phenotype #0000161723

Individual ID 00213248
Associated disease CMS
Phenotype details 19y-macular rash involving neck, trunk, left arm, leg (since birth), mild bilateral ptosis, mild facial weakness, mild generalized reduction muscle power
Diagnosis/Initial myasthenic syndrome, congenital
Inheritance Unknown
Diagnosis/Definite CMS-11
Age/Examination -
Age/Diagnosis -
Age/Onset 0d
Phenotype/Onset hypotonic, arthrogryposis knees/hips, poor suck/cry, required oxygen and frequent suctioning; childhood recurrent respiratory infections, generalized weakness
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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