Global Variome shared LOVD

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

Phenotype #0000188752 Individual ID 00250188 Associated disease MTDPS1 Phenotype details Elevated thymidine, liver cirrhosis and failure, hearing loss Diagnosis/Initial Liver failure Inheritance Familial, autosomal recessive Diagnosis/Definite MNGIE Age/Examination - Age/Diagnosis - Age/Onset 00y14m Phenotype/Onset 14m Protein Thymidine Phosphorylase Owner name Kimberly Kripps Database submission license No license selected Created by Kimberly Kripps Date created 2019-08-02 21:09:13 +02:00 (CEST) Date last edited 2019-08-05 08:55:41 +02:00 (CEST)

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