Global Variome shared LOVD

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

Phenotype #0000188753 Individual ID 00250189 Associated disease MTDPS1 Phenotype details severe gastrointestinal dysmotility, fatigue, weakness, extremity paresthesias Diagnosis/Initial MNGIE Inheritance Familial, autosomal recessive Diagnosis/Definite MNGIE Age/Examination - Age/Diagnosis 20y Age/Onset - Phenotype/Onset - Protein Thymidine Phosphorylase Owner name Kimberly Kripps Database submission license No license selected Created by Kimberly Kripps Date created 2019-08-02 21:19:52 +02:00 (CEST) Date last edited 2019-08-05 08:56:11 +02:00 (CEST)

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