Global Variome shared LOVD

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

Phenotype #0000325191 Individual ID 00434944 Associated disease NP Diagnosis/Initial Niemann-Pick type C, juvenile Diagnosis/Definite NPC1 Phenotype details ataxia, progressive learning disability Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis 12y Age/Onset 8y 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 2023-04-14 17:49:22 +02:00 (CEST) Date last edited N/A

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