Global Variome shared LOVD

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Phenotype #0000344901 Individual ID 00456386 Associated disease MPS Diagnosis/Initial Hurler–Scheie syndrome Diagnosis/Definite MPS1-HS Phenotype details corneal clouding, corneal cloudingF, dysostosis multiplexhepatomegaly, joint stiffness, splenomegaly, short stature, umbilical hernia Inheritance Familial, autosomal recessive Age/Examination 3y (3 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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