Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000161757 Individual ID 00213282 Associated disease CMS Phenotype details 2d-2 generalized tonic clonic seizures with cyanosis, treated 5d with phenobarbital; 4m-generalized moderate hypotonia, feeding difficulties; 9y-minor contractions extremities, almost normal muscle force, fluctuating ptosis, intermittent double vision, no major restrictionsevery day live Diagnosis/Initial myasthenic syndrome, congenital Inheritance Isolated (sporadic) Diagnosis/Definite CMS-11 Age/Examination - Age/Diagnosis - Age/Onset 0d Phenotype/Onset distinctive facial features, congenital contractures repeated apneic events required nasogastric feeding and continuous positive airways pressure >24h Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2011-11-05 12:10:31 +01:00 (CET) Date last edited 2012-03-09 20:01:37 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.