Global Variome shared LOVD

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

Phenotype #0000166305 Individual ID 00217855 Associated disease MMEO Phenotype details Marked axial weakness; ophthalmoplegia; mild scoliosis; FVC 0.58; walk (18-24m) Diagnosis/Initial minicore myopathy Inheritance Familial Diagnosis/Definite MMD Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset Reduced fetal movements; hypotonia; feeding problems; delayed motor milestones Protein - Owner name Jorge Oliveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2010-09-10 15:52:10 +02:00 (CEST) Date last edited 2012-03-09 20:10:48 +01:00 (CET)

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