Global Variome shared LOVD

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Phenotype #0000089952 Individual ID 00114470 Associated disease MPS2 Phenotype details see paper; ..., severe; short stature, joint stiffness, mild hepatomegaly, relatively normal intelligence, mild bony changes, mild aortic regurgitation/stenosis, mitral regurgitation, stenosis, attends regular elementary school. Fibroblasts from the patient and normal control were cultured in Eagle’s minimum esse Diagnosis/Initial mucopolysaccharidosis Inheritance Familial, X-linked recessive Diagnosis/Definite MPS2 Age/Examination 12y04m (12 years, 4 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-11-28 19:57:45 +01:00 (CET) Date last edited 2024-10-08 19:47:01 +02:00 (CEST)

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