Global Variome shared LOVD

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

Phenotype #0000324725 Individual ID 00434368 Associated disease NP Diagnosis/Initial Niemann-Pick type C disease Diagnosis/Definite NPC2 Phenotype details 15m-deceased respiratory failure; soon after birth visceromegaly, cholestasis, failure to thrive, progressive lung interstitial involvement Inheritance Familial, autosomal recessive Age/Examination 15m 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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