Global Variome shared LOVD

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

Phenotype #0000345701 Individual ID 00457204 Associated disease MPS Diagnosis/Initial mucopolysaccharidosis Diagnosis/Definite MPS2 Phenotype details severe developmental delay; developmental regression; dysostosis multiplex; short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; no carpal tunnel syndrome; inguinal hernia, no umbilical hernia; hepatomegaly, splenomegaly; no obesity; heart valve involvement; cardiomyopathy; no adenotomy, tonsillectomy; hearing impairment; seizures; hydrocephalus Inheritance Unknown Age/Examination 23y (23 years) Age/Diagnosis 2y6m Age/Onset 18m Phenotype/Onset kyphosis, speech delay Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-11-01 14:10:43 +01:00 (CET) Date last edited N/A

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