Global Variome shared LOVD

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Phenotype #0000344191 Individual ID 00455658 Associated disease MPS Diagnosis/Initial mucopolysaccharidosis Diagnosis/Definite MPS2 Phenotype details see paper; ..., Hunter syndrome, macrosomia (height, weight, OFC all >90th centile), coarse facial features, hazy corneas, arthrogryposis elbows/fingers, hepatomegaly, developmental delay (18m-walk, 2y6m-speech 5 words, 4y-toilet-trained; 5y-speak in complete sentences, recite alphabet, count to 30 Inheritance Familial, X-linked recessive Age/Examination 05y (5 years) Age/Diagnosis 02y06m 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 2024-10-13 16:32:55 +02:00 (CEST) Date last edited N/A

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