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 InternationalCreative Commons License
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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