Global Variome shared LOVD

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

Phenotype #0000345919 Individual ID 00457455 Associated disease MTPD Phenotype details see paper; ..., respiratory failure, hypotonia; liver dysfunction; delayed development Diagnosis/Initial mitochondrial trifunctional protein deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite MTPD2 Age/Examination - Age/Diagnosis - Age/Onset 01y01m Phenotype/Onset lethargy, respiratory failure Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-11-12 16:48:09 +01:00 (CET) Date last edited 2024-11-16 16:36:17 +01:00 (CET)

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