Global Variome shared LOVD

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

Phenotype #0000233154 Individual ID 00307440 Associated disease PFIC Diagnosis/Initial progressive familial intrahepatic cholestasis Diagnosis/Definite - Phenotype details characteristic phenotype (cholestatic liver cirrhosis, low gamma-glutamyltransferase) Inheritance Familial, autosomal recessive Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-08-13 16:04:48 +02:00 (CEST) Date last edited N/A

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