Global Variome shared LOVD

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Phenotype #0000324719 Individual ID 00434362 Associated disease NP Diagnosis/Initial Niemann-Pick type C disease Diagnosis/Definite NPC2 Phenotype details 4m-neonatal cholestatic icterus; pulmonary involvement; 7m-9m-severe motor development delay (15m-sit, no further progress); growth retardation, increasing pulmonary fibrosis, oxygen dependency, respiratory failure Inheritance Familial, autosomal recessive Age/Examination 19m 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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