Global Variome shared LOVD

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Phenotype #0000343791 Individual ID 00455211 Associated disease MPS Diagnosis/Initial mucopolysaccharidosis Diagnosis/Definite MPS2 Phenotype details 10y-deceased; severe; 3y6m-coarse face, hearing loss, hepatosplenomegaly, severe thoracolumbar kyphosis, limitations of joint mobility, mental retardation, mitroaortic valvular dysplasia, no corneal clouding Inheritance Familial, X-linked 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 2024-10-06 15:06:01 +02:00 (CEST) Date last edited N/A

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