Phenotype #0000343789

Individual ID 00455209
Associated disease MPS
Diagnosis/Initial mucopolysaccharidosis
Diagnosis/Definite MPS2
Phenotype details see paper; ..., severe; 4y-markedly delayed psychomotor/speech development, coarse facial features, macroglossia, hepatosplenomegaly, arthrogryposis fingers/toes, gibbus, short stature, dysostosis multiplex, hearing loss, hypertrophy adenoids
Inheritance Familial, X-linked
Age/Examination 04y (4 years)
Age/Diagnosis -
Age/Onset -
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 13:34:57 +02:00 (CEST)
Date last edited 2024-12-07 16:41:12 +01:00 (CET)

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