Phenotype #0000346667

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00458231
Associated disease	MPS
Diagnosis/Initial	Hunter syndrome
Diagnosis/Definite	MPS2
Phenotype details	Hunter syndrome; neuronopathic; speech regression; coarse features
Inheritance	Familial, X-linked recessive
Age/Examination	10y (10 years)
Age/Diagnosis	6y
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-12-09 09:22:48 +01:00 (CET)
Date last edited	N/A

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