Global Variome shared LOVD

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

Phenotype #0000345688 Individual ID 00457191 Associated disease MPS Diagnosis/Initial mucopolysaccharidosis Diagnosis/Definite MPS2 Phenotype details no developmental delay; no developmental regression; dysostosis multiplex; short stature; coarse facial features; macrocephaly; no macroglossia; joint contractures; carpal tunnel syndrome; inguinal hernia, umbilical hernia; hepatomegaly, no splenomegaly; no obesity; heart valve involvement; cardiomyopathy; no adenotomy, no tonsillectomy; no acute otitis media; hearing impairment; no seizures; no hydrocephalus Inheritance Unknown Age/Examination 14y6m (14 years, 6 months) Age/Diagnosis 6y6m Age/Onset 4y6m Phenotype/Onset recc. resp. inf., hearing impairment 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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