Global Variome shared LOVD

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

Phenotype #0000203355 Individual ID 00265568 Associated disease MD Phenotype details see paper; …, unable to stand on tiptoe Diagnosis/Initial dysferlinopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MMD1 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset unable to stand on tiptoe 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 19:32:10 +02:00 (CEST)

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