Global Variome shared LOVD

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

Phenotype #0000324713 Individual ID 00434356 Associated disease NP Diagnosis/Initial Niemann-Pick type C disease Diagnosis/Definite NPC1 Phenotype details 7m-substrate reduction therapy 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 15:25:57 +01:00 (CET) Date last edited N/A

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