Phenotype #0000125762

Individual ID 00153035
Associated disease CMS
Phenotype details 5y-walking; 8y-ophthalmoparesis; 10y-fatigability; 13y-contractures knee/hip; 13y-loss ambulation; positive edrophonium test
Diagnosis/Initial syndrome, myasthenic, congenital, slow channel (SCCMS)
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 32y (32 years)
Age/Diagnosis -
Age/Onset 0d
Phenotype/Onset poor head control, weak suck
Protein no AChR antibodies
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 2011-02-13 11:25:00 +01:00 (CET)
Date last edited 2012-03-09 19:17:22 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.