Phenotype #0000344017

Individual ID 00455454
Associated disease MPS
Diagnosis/Initial mucopolysaccharidosis
Diagnosis/Definite MPS2
Phenotype details see paper; ..., <7m-smile, 12m-sit, 18m-stand, 24m-walk, 36m-speak few words, sensory hearing deficit; 2y-joint stiffness, no skeletal anomalies; slight facial dysmorphism, mild coarsening, slight microorchidism; 4y-skeletal changes, macrocephaly, full lips, macroglossia, severe hepatomegaly, large inguinal hernia
Inheritance Unknown
Age/Examination 09y (9 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 2024-10-09 22:00:47 +02:00 (CEST)
Date last edited N/A

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