Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000343794 Individual ID 00455214 Associated disease MPS Diagnosis/Initial mucopolysaccharidosis Diagnosis/Definite MPS2 Phenotype details height 117 cm (25th centile), coarse face, dysostosis multiplex, delayed language development, no sphincter control, no corneal opacification; echocardiogram mild mitral/aortic insufficiency Inheritance Familial, X-linked recessive Age/Examination - 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 16:08:10 +02:00 (CEST) Date last edited N/A

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