Global Variome shared LOVD

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Phenotype #0000325224 Individual ID 00434977 Associated disease NP Diagnosis/Initial Niemann-Pick type C, late infantile Diagnosis/Definite NPC1 Phenotype details hepatosplenomegaly Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis 6y Age/Onset 2y 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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