Global Variome shared LOVD

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

Phenotype #0000359772 Individual ID 00474981 Associated disease NMD Diagnosis/Initial muscular dystrophy Diagnosis/Definite - Phenotype details see paper; ..., disease mild; <24m-walk; still ambulant; congenital contracture distal; hip dislocation; kyphosis Inheritance Familial, autosomal recessive Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-31 16:36:01 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.