Global Variome shared LOVD

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Phenotype #0000346626 Individual ID 00458190 Associated disease MPS Diagnosis/Initial mucopolysaccharidosis Diagnosis/Definite MPS2 Phenotype details attenuated; height SD-3.7; hepatosplenomegaly; coarse facial features; umbilical hernia; mitral valve insufficiency; mitral valve stenosis; no aortic valve insufficiency; no aortic valve stenosis; cardiomyopathy; osteoarthropathy; hypoacusia; no neurological involvement; stiff joints Inheritance Familial, X-linked recessive Age/Examination 15.91y Age/Diagnosis 6y Age/Onset 3y 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 2024-12-08 15:50:30 +01:00 (CET) Date last edited N/A

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