Global Variome shared LOVD

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

Phenotype #0000324720 Individual ID 00434363 Associated disease NP Diagnosis/Initial Niemann-Pick type C disease Diagnosis/Definite NPC2 Phenotype details failure to thrive (with poor feeding); 1y-hepatospleno-megaly, mild delay motor milestones, severe lung involvement; 20m-oxygen dependent, quadruspasticity Inheritance Familial, autosomal recessive Age/Examination 4y (4 years) 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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