Global Variome shared LOVD

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Phenotype #0000325177 Individual ID 00434930 Associated disease NP Diagnosis/Initial Niemann-Pick type C disease Diagnosis/Definite NPC2 Phenotype details classic; 3y-splenomegaly, bed-ridden, amyotrophy, no clear pyramidal syndrome, severe respiratory problems, close to terminal stage; elder brother died 3y6m-mental rregression; younger brother died 4m-icterus Inheritance Familial, autosomal recessive Age/Examination 03y (3 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 2023-04-14 15:50:20 +02:00 (CEST) Date last edited N/A

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