Global Variome shared LOVD

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Phenotype #0000345639 Individual ID 00457140 Associated disease MPS Diagnosis/Initial mucopolysaccharidosis Diagnosis/Definite MPS2 Phenotype details severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis 2y0m Age/Onset 1y11m Phenotype/Onset developmental retardation Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-10-31 20:52:19 +01:00 (CET) Date last edited N/A

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