Global Variome shared LOVD

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

Phenotype #0000188754 Individual ID 00250190 Associated disease MTDPS1 Phenotype details demyelinating neuropathy, liver cirrhosis, gastric dysmotility Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite MNGIE Age/Examination - Age/Diagnosis 22y Age/Onset - Phenotype/Onset 14y Protein Thymidine Phosphorylase Owner name Kimberly Kripps Database submission license No license selected Created by Kimberly Kripps Date created 2019-08-02 21:30:13 +02:00 (CEST) Date last edited 2019-08-05 08:56:58 +02:00 (CEST)

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