Global Variome shared LOVD

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Phenotype #0000344476 Individual ID 00455949 Associated disease MPS Diagnosis/Initial Hunter syndrome Diagnosis/Definite MPS2 Phenotype details coarse facial appearance, macrocephly, global developmental delay/intellectual disability, skeletal deformity, joint stiffness, hyperactivity; 6y-significant loss ability self-help skill Inheritance Unknown Age/Examination 6y (6 years) Age/Diagnosis 3y 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 2024-10-21 16:50:49 +02:00 (CEST) Date last edited N/A

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