Global Variome shared LOVD

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Phenotype #0000324721 Individual ID 00434364 Associated disease NP Diagnosis/Initial Niemann-Pick type C disease Diagnosis/Definite NPC2 Phenotype details no neonatal cholestatic icterus; 11m-respiratory distress, pulmonary infiltration, (hepato-)splenomegaly; 13m-acute respiratory problems, normal psychomotor development; 18m-hypotonia, gait problems (elder brother splenomegaly, 6m- died in Turkey) Inheritance Familial, autosomal recessive Age/Examination 20m 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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