Phenotype #0000345704

Individual ID 00457207
Associated disease MPS
Diagnosis/Initial mucopolysaccharidosis
Diagnosis/Definite MPS2
Phenotype details onset infancy; moderate developmental delay; developmental regression; dysostosis multiplex; short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; carpal tunnel syndrome; no inguinal hernia, umbilical hernia; obesity; heart valve involvement; no cardiomyopathy; adenotomy, no tonsillectomy; acute otitis media; hearing impairment; no seizures; hydrocephalus
Inheritance Familial, X-linked recessive
Age/Examination 8y (8 years)
Age/Diagnosis 3y
Age/Onset -
Phenotype/Onset laryngeal stridor, hepatomegaly
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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