Phenotype #0000343794

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00455214
Associated disease	MPS
Diagnosis/Initial	mucopolysaccharidosis
Diagnosis/Definite	MPS2
Phenotype details	height 117 cm (25th centile), coarse face, dysostosis multiplex, delayed language development, no sphincter control, no corneal opacification; echocardiogram mild mitral/aortic insufficiency
Inheritance	Familial, X-linked recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-10-06 16:08:10 +02:00 (CEST)
Date last edited	N/A

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