Global Variome shared LOVD

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Phenotype #0000324832 Individual ID 00434497 Associated disease NP Diagnosis/Initial Niemann-Pick type C disease, adult Diagnosis/Definite NPC1 Phenotype details prolonged jaundice; no hepatosplenomegaly, no splenomegaly; no seizures; vertical gaze palsy; ataxia; swallowing problems; no psychiatric disturbance Inheritance Familial, autosomal recessive Age/Examination 22y (22 years) Age/Diagnosis - Age/Onset 16y 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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