Global Variome shared LOVD

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

Phenotype #0000345676 Individual ID 00457179 Associated disease MPS Diagnosis/Initial mucopolysaccharidosis Diagnosis/Definite MPS2 Phenotype details severe developmental delay; developmental regression; dysostosis multiplex; no short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; no carpal tunnel syndrome; inguinal hernia, umbilical hernia; obesity; no heart valve involvement; cardiomyopathy; adenotomy, no tonsillectomy; hearing impairment; seizures; hydrocephalus Inheritance Familial, X-linked recessive Age/Examination 11y6m (11 years, 6 months) Age/Diagnosis 5y Age/Onset 1m Phenotype/Onset macrocephaly, inguinal hernia 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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