Global Variome shared LOVD

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Phenotype #0000344885 Individual ID 00456370 Associated disease MPS Diagnosis/Initial Hurler–Scheie syndrome Diagnosis/Definite MPS1-HS Phenotype details corneal clouding, coarse facial features, dysostosis multiplex, hepatomegaly, joint contractures, short stature Inheritance Familial, autosomal recessive Age/Examination 10y (10 years) 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 2024-10-25 15:49:01 +02:00 (CEST) Date last edited N/A

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