Global Variome shared LOVD

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

Phenotype #0000160334 Individual ID 00211853 Associated disease CNM Phenotype details mild; walks; CPK raised 36 U/L Diagnosis/Initial myotubular myopathy Inheritance Isolated (sporadic) Diagnosis/Definite CNMX Age/Examination - Age/Diagnosis >2y Age/Onset <1m Phenotype/Onset facial paresis, hypotony Protein - Owner name Jorge Oliveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2010-01-12 19:35:49 +01:00 (CET) Date last edited 2012-06-22 15:49:43 +02:00 (CEST)

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