Phenotype #0000344481

Individual ID 00455954
Associated disease MPS
Diagnosis/Initial Hunter syndrome
Diagnosis/Definite MPS2
Phenotype details coarse facial appearance, macrocephly, hydrocephalus, global developmental delay/intellectual disability, hepatosplenomegaly, indirect inguinal hernia, skeletal deformity, joint stiffness, hyperactivity, obstructive airway disease; 15y4m-deceased (pneumonia)
Inheritance Familial, X-linked recessive
Age/Examination 15y4m (15 years, 4 months)
Age/Diagnosis 2y
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 2024-10-21 16:50:49 +02:00 (CEST)
Date last edited N/A

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