Global Variome shared LOVD

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Phenotype #0000325304 Individual ID 00410806 Associated disease HPS Phenotype details 2 sisters also affected with Hermansky-Pudlak syndrome Diagnosis/Initial Hermansky-Pudlak syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite HPS1 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-05-05 17:14:43 +02:00 (CEST) Date last edited N/A

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