Global Variome shared LOVD

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Phenotype #0000344819 Individual ID 00456300 Associated disease ? Diagnosis/Initial mucopolysaccharidosis/mucolipidosis Diagnosis/Definite MPS6 Phenotype details see paper; ... (detailed) Inheritance Familial, autosomal recessive Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset - 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 09:48:27 +02:00 (CEST) Date last edited N/A

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