Phenotype #0000161720

Individual ID 00213245
Associated disease CMS
Phenotype details 3y-ptosis, fatigability, no limb weakness, open mouth
Diagnosis/Initial myasthenic syndrome, congenital
Inheritance Unknown
Diagnosis/Definite CMS-11
Age/Examination -
Age/Diagnosis -
Age/Onset <0d
Phenotype/Onset hydramnios, arthrogryposis, hypotonia, respiratory distress, intubating day 1-8
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)

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.