Global Variome shared LOVD

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Phenotype #0000324685 Individual ID 00434328 Associated disease NP Diagnosis/Initial Niemann-Pick type C disease, severe infantile Diagnosis/Definite NPC2 Phenotype details hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); dysarthria (HP:0001260); hypotonia (HP:0001252); respiratory distress with interstitial lung infiltration Inheritance Familial, autosomal recessive Age/Examination 3y (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 2023-03-23 15:25:57 +01:00 (CET) Date last edited N/A

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