Global Variome shared LOVD

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

Phenotype #0000366945 Individual ID 00484165 Associated disease MADD Phenotype details lipid storage myopathy, multiple acyl-coenzyme-A dehydrogenation deficiency Diagnosis/Initial lipid storage myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MADD Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-08-30 14:05:26 +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.