Phenotype #0000345701

Individual ID 00457204
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; no carpal tunnel syndrome; inguinal hernia, no umbilical hernia; hepatomegaly, splenomegaly; no obesity; heart valve involvement; cardiomyopathy; no adenotomy, tonsillectomy; hearing impairment; seizures; hydrocephalus
Inheritance Unknown
Age/Examination 23y (23 years)
Age/Diagnosis 2y6m
Age/Onset 18m
Phenotype/Onset kyphosis, speech delay
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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