Global Variome shared LOVD

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Phenotype #0000078605 Individual ID 00100412 Associated disease MPS2 Phenotype details see paper; ..., coarse facial features, hepatomegaly (6 cm), splenomegaly (6 cm), elbowstiffness, hypospadias; dilatation perivascular spaces and white matter abnormalities, mitral regurgitation Diagnosis/Initial - Inheritance Familial, X-linked Diagnosis/Definite - Age/Examination 03y (3 years) Age/Diagnosis 00y07m Age/Onset - Phenotype/Onset family hostory Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-02-19 11:43:31 +01:00 (CET) Date last edited 2017-02-19 11:48:19 +01:00 (CET)

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