Global Variome shared LOVD

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Phenotype #0000324815 Individual ID 00434480 Associated disease NP Diagnosis/Initial Niemann-Pick type C disease, childhood Diagnosis/Definite NPC1 Phenotype details prolonged jaundice neonatal liver disease; hepatosplenomegaly; cataplexy; vertical gaze palsy; ataxia; swallowing problems Inheritance Familial, autosomal recessive Age/Examination 9y (9 years) Age/Diagnosis - 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 2023-04-01 17:36:26 +02:00 (CEST) Date last edited N/A

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