Global Variome shared LOVD

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

Phenotype #0000346177 Individual ID 00457728 Associated disease MTPD Phenotype details see paper; ..., 13d-deceased; no hypoparathyroidism; no peripheral neuropathy; maternal pregnancy HELLP syndrome Diagnosis/Initial mitochondrial trifunctional protein deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite MTPD1 Age/Examination - Age/Diagnosis - Age/Onset 8d Phenotype/Onset cardiac 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 2024-11-16 17:08:42 +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.