Global Variome shared LOVD

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Phenotype #0000324716 Individual ID 00434359 Associated disease NP Diagnosis/Initial Niemann-Pick type C disease Diagnosis/Definite NPC2 Phenotype details hydramnios, 32w-birth cesarean sectio, respiratory distress from birth; 4d-30d-moderate neonatal cholestatic icterus; hepatosplenomegaly, respiratory failure (2 affected siblings diagnosed prenatally, pregnancies were terminated) Inheritance Familial, autosomal recessive Age/Examination 6m 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 19:05:01 +01:00 (CET) Date last edited N/A

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