Phenotype #0000343791

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00455211
Associated disease	MPS
Diagnosis/Initial	mucopolysaccharidosis
Diagnosis/Definite	MPS2
Phenotype details	10y-deceased; severe; 3y6m-coarse face, hearing loss, hepatosplenomegaly, severe thoracolumbar kyphosis, limitations of joint mobility, mental retardation, mitroaortic valvular dysplasia, no corneal clouding
Inheritance	Familial, X-linked recessive
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-10-06 15:06:01 +02:00 (CEST)
Date last edited	N/A

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