Phenotype #0000345668

Individual ID 00457171
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; carpal tunnel syndrome; no inguinal hernia, no umbilical hernia; obesity; heart valve involvement; cardiomyopathy; adenotomy, no tonsillectomy; acute otitis media; hearing impairment; no seizures; no hydrocephalus
Inheritance Unknown
Age/Examination 6y (6 years)
Age/Diagnosis 1y6m
Age/Onset 12m
Phenotype/Onset reccurent acute otitis media
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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