Global Variome shared LOVD

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Phenotype #0000324714 Individual ID 00434357 Associated disease NP Diagnosis/Initial Niemann-Pick type C disease Diagnosis/Definite NPC2 Phenotype details 6m-died; neonatal cholestatic icterus, hepatosplenomegaly, respiratory failure (3 affected siblings diagnosed prenatally, pregnancies terminated) Inheritance Familial, autosomal recessive Age/Examination 00y06m (6 months) 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 15:46:41 +01:00 (CET) Date last edited 2023-03-23 17:24:12 +01:00 (CET)

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