Phenotype #0000346626

Individual ID 00458190
Associated disease MPS
Diagnosis/Initial mucopolysaccharidosis
Diagnosis/Definite MPS2
Phenotype details attenuated; height SD-3.7; hepatosplenomegaly; coarse facial features; umbilical hernia; mitral valve insufficiency; mitral valve stenosis; no aortic valve insufficiency; no aortic valve stenosis; cardiomyopathy; osteoarthropathy; hypoacusia; no neurological involvement; stiff joints
Inheritance Familial, X-linked recessive
Age/Examination 15.91y
Age/Diagnosis 6y
Age/Onset 3y
Phenotype/Onset -
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 2024-12-08 15:50:30 +01:00 (CET)
Date last edited N/A

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