Phenotype #0000346638

Individual ID 00458202
Associated disease MPS
Diagnosis/Initial mucopolysaccharidosis
Diagnosis/Definite MPS2
Phenotype details severe; height SD+1.2; hepatosplenomegaly; coarse facial features; umbilical hernia; mitral valve insufficiency; no mitral valve stenosis; no aortic valve insufficiency; no aortic valve stenosis; no cardiomyopathy; osteoarthropathy; no hypoacusia; neurological involvement; stiff joints
Inheritance Familial, X-linked recessive
Age/Examination 3.66y
Age/Diagnosis 1.9y
Age/Onset 1y
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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