Global Variome shared LOVD

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

Phenotype #0000233156 Individual ID 00307442 Associated disease ? Diagnosis/Initial congenital bile acid synthesis defect Diagnosis/Definite - Phenotype details characteristic phenotype (Neonatal cholestasis) Inheritance Familial, autosomal recessive Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - 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 2020-08-13 16:04:48 +02:00 (CEST) Date last edited N/A

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