Global Variome shared LOVD

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Phenotype #0000324662 Individual ID 00434304 Associated disease NP Diagnosis/Initial Niemann-Pick type C disease Diagnosis/Definite NPC1 Phenotype details see paper; ..., visceral enlargement; cholestasis; neurological involvement; psychomotor retardation, vertical ophthalmoplegia, photophobia, rigidity lower extremities with varus deviation Inheritance Familial, autosomal recessive Age/Examination 2y6m (2 years, 6 months) 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 11:09:30 +01:00 (CET) Date last edited N/A

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