Phenotype #0000153523

Individual ID 00205329
Associated disease CMS
Phenotype details severe; 2w-opened eyes; early infancy delayed gross motor development, muscular weakness, myopathic facies, external ophthalmoplegia, episodes of deteriorating muscular strength during febrile infections; 3y-died after developing fulminant sepsis and acute respiratory insufficiency
Diagnosis/Initial congenital myasthenic syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite CMS-5
Age/Examination -
Age/Diagnosis -
Age/Onset 0d
Phenotype/Onset ptosis, muscular weakness, difficulties pulmonary adaption
Protein -
Owner name Angela Abicht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2011-02-13 11:32:36 +01:00 (CET)
Date last edited 2012-03-09 18:55:42 +01:00 (CET)

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