Global Variome shared LOVD

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

Phenotype #0000345684 Individual ID 00457187 Associated disease MPS Diagnosis/Initial mucopolysaccharidosis Diagnosis/Definite MPS2 Phenotype details moderate developmental delay; no developmental regression; dysostosis multiplex; no short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; carpal tunnel syndrome; no inguinal hernia, no umbilical hernia; obesity; no heart valve involvement; no cardiomyopathy; adenotomy, no tonsillectomy; acute otitis media; hearing impairment; no seizures; no hydrocephalus Inheritance Isolated (sporadic) Age/Examination 5y (5 years) Age/Diagnosis 3y6m Age/Onset 2y Phenotype/Onset adenoid hypertrophy 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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