Global Variome shared LOVD

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

Phenotype #0000203362 Individual ID 00265575 Associated disease MD Phenotype details see paper; …, lower limbs weakness Diagnosis/Initial dysferlinopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MMD1 Age/Examination - Age/Diagnosis 38y Age/Onset 28y Phenotype/Onset lower limbs weakness Protein - Owner name Rumiko Izumi Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-08-23 12:48:12 +02:00 (CEST) Date last edited 2020-05-02 19:32:58 +02:00 (CEST)

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