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 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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