Phenotype #0000089937

Individual ID 00114455
Associated disease MPS2
Phenotype details severe; no IDS activity fibroblasts; moderate intellectual disability; dysmorphic face, joint stiffness, bone deformity
Diagnosis/Initial mucopolysaccharidosis
Inheritance Unknown
Diagnosis/Definite MPS2
Age/Examination 06y (6 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2009-11-28 19:57:45 +01:00 (CET)
Date last edited 2024-10-08 20:34:35 +02:00 (CEST)

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