Global Variome shared LOVD

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Phenotype #0000324729 Individual ID 00434372 Associated disease NP Diagnosis/Initial Niemann-Pick type C disease Diagnosis/Definite NPC2 Phenotype details neonatal cholestatic icterus, severe hepatosplenomegaly with ascites, recovery; paternal aunt died at 2m-neonatal cholestatic liver disease Inheritance Familial, autosomal recessive Age/Examination 9m Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-03-23 20:54:35 +01:00 (CET) Date last edited N/A

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