Global Variome shared LOVD

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Phenotype #0000343789 Individual ID 00455209 Associated disease MPS Diagnosis/Initial mucopolysaccharidosis Diagnosis/Definite MPS2 Phenotype details see paper; ..., severe; 4y-markedly delayed psychomotor/speech development, coarse facial features, macroglossia, hepatosplenomegaly, arthrogryposis fingers/toes, gibbus, short stature, dysostosis multiplex, hearing loss, hypertrophy adenoids Inheritance Familial, X-linked Age/Examination 04y (4 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 13:34:57 +02:00 (CEST) Date last edited 2024-12-07 16:41:12 +01:00 (CET)

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