Global Variome shared LOVD

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

Phenotype #0000346094 Individual ID 00457635 Associated disease MTPD Phenotype details see paper; ..., 10d-deceased (severe necrotizing enterocolitis, cardiomyopathy, multiorgan failure); newborn screening newborn screening LCHAD deficiency Diagnosis/Initial newborn screening LCHAD deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite MTPD2 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 2024-11-15 13:11:45 +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.