Global Variome shared LOVD

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

Phenotype #0000344013 Individual ID 00455449 Associated disease MPS Diagnosis/Initial mucopolysaccharidosis Diagnosis/Definite MPS2 Phenotype details severe; dysmorphic face, severe intellectual disability, contractures, ataxia, epilepsy 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 2024-10-09 10:53:02 +02:00 (CEST) Date last edited 2024-10-10 14:51:23 +02:00 (CEST)

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