Global Variome shared LOVD

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

Phenotype #0000153553 Individual ID 00205359 Associated disease CMS Phenotype details muscle weakness of proximal distribution. scoliosis. vent-dependent. Diagnosis/Initial congenital myasthenic syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite CMS-5 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Tom Winder Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-05-23 20:07:07 +02:00 (CEST) Date last edited N/A

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