Global Variome shared LOVD

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

Phenotype #0000128102 Individual ID 00155720 Associated disease ? Diagnosis/Initial diarrhea Diagnosis/Definite - Phenotype details language delay partially linked to severe bilateral perception deafness, no sign of bone fragility, no liver disease. Inheritance Familial, autosomal recessive Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset 00y00m04d Phenotype/Onset intractable diarrhea Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-03-24 14:56:47 +01:00 (CET) Date last edited N/A

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