Phenotype #0000343792

Individual ID 00455212
Associated disease MPS
Diagnosis/Initial mucopolysaccharidosis
Diagnosis/Definite MPS2
Phenotype details see paper; ..., 8y-height 118 cm (10th centile), coarse face, hepatosplenomegaly, dysostosis multiplex, walking difficulties, history of neurological regression, no corneal opacification; electrocardiogram normal; echocardiogram mild regurgitation aortic/mitral valves, mild thickening aortic valve
Inheritance Familial, autosomal recessive
Age/Examination 08y (8 years)
Age/Diagnosis -
Age/Onset 04y
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 2024-10-06 15:54:11 +02:00 (CEST)
Date last edited N/A

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