Global Variome shared LOVD

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Phenotype #0000343792 Individual ID 00455212 Associated disease MPS Diagnosis/Initial mucopolysaccharidosis Diagnosis/Definite MPS2 Phenotype details see paper; ..., 8y-height 118 cm (10th centile), coarse face, hepatosplenomegaly, dysostosis multiplex, walking difficulties, history of neurological regression, no corneal opacification; electrocardiogram normal; echocardiogram mild regurgitation aortic/mitral valves, mild thickening aortic valve Inheritance Familial, autosomal recessive Age/Examination 08y (8 years) Age/Diagnosis - Age/Onset 04y 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 2024-10-06 15:54:11 +02:00 (CEST) Date last edited N/A

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