Global Variome shared LOVD

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

Phenotype #0000130172 Individual ID 00165293 Associated disease MYOP Phenotype details predominant axial and limb girdle weakness; 2y7m-hypotonia, hyperextension knees/elbows, waddling gait, Gowers’ sign; >5y-loss ambulation Diagnosis/Initial myopathy, congenital Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 2y7m Phenotype/Onset delayed motor development Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-10-26 18:08:11 +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.