Phenotype #0000346622

Individual ID 00458185
Associated disease MPS
Diagnosis/Initial Hunter syndrome
Diagnosis/Definite MPS2
Phenotype details see paper; ..., born at term, weight 3.8kg, umbilical hernia; no neonatal problems; 14m-walk; delayed speech, 18m-first words, 2y-sentences; late Sphincter control; impaired hearing; 2y9m-coarse facial features, skeletal abnormalities, enlarged liver; large tongue, coarse facial features, clear corneae, hypertrichosis back/shoulders/upper arms
Inheritance Isolated (sporadic)
Age/Examination 03y (3 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 2024-12-07 17:50:58 +01:00 (CET)
Date last edited N/A

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