Global Variome shared LOVD

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Phenotype #0000344881 Individual ID 00456366 Associated disease MPS Diagnosis/Initial Hurler syndrome Diagnosis/Definite MPS1-H Phenotype details corneal clouding, coarse facial features, cardiomegaly, dysostosis multiplex, global developmental delay, hepatomegaly, joint stiffness, recurrent respiratory infections, sleep disturbance Inheritance Familial, autosomal recessive Age/Examination 2y (2 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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