Global Variome shared LOVD

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Phenotype #0000344742 Individual ID 00456223 Associated disease ? Diagnosis/Initial lysosomal storage disorder Diagnosis/Definite - Phenotype details see paper; ... (detailed) Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 2y Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-10-24 08:52:57 +02:00 (CEST) Date last edited N/A

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