Global Variome shared LOVD

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

Phenotype #0000346055 Individual ID 00457591 Associated disease MTPD Phenotype details no hypoglycemia, cardiomyopathy during metabolic decompensation, skeletal myopathy, peripheral neuropathy (axonal/myelin degeneration) Diagnosis/Initial fatty acid oxidation disorder Inheritance Familial, autosomal recessive Diagnosis/Definite MTPD2 Age/Examination 25y (25 years) Age/Diagnosis - Age/Onset 3y 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 2024-11-14 19:45:20 +01:00 (CET) Date last edited N/A

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