Global Variome shared LOVD

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Phenotype #0000346620 Individual ID 00458183 Associated disease MPS Diagnosis/Initial delayed development Diagnosis/Definite MPS2 Phenotype details see paper; ..., birth at term, weight 3450g; slightly deleayed early motor development; 3m-head control, 14m-crawl, 18m-walk; delayed speech, 10m-first words, 3y-sentences; 7y-weight 30 kg (+1.4SD), height 116.7cm (-1.3 SD), coarse face, stiff joints, hepatomegaly, skeletal involvement, hyperactivity Inheritance Familial, X-linked recessive Age/Examination 07y (7 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 2024-12-07 17:19:27 +01:00 (CET) Date last edited N/A

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