Phenotype #0000345622

Individual ID 00457123
Associated disease MPS
Diagnosis/Initial mucopolysaccharidosis
Diagnosis/Definite MPS2
Phenotype details mild; no hepato-splenomegaly; no road nose, no macroglossia, no macrocrania; no joint stiffness, no oval vertebrae; no cardiovascular involvement; no intellectual disability; no nasal obstruction, no sleep apnea, no otitis, no adenoids; no eye disease
Inheritance Familial, X-linked recessive
Age/Examination -
Age/Diagnosis 2y5m
Age/Onset 2y3m
Phenotype/Onset family history
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 2024-10-31 20:52:19 +01:00 (CET)
Date last edited N/A

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