Phenotype #0000345344

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curators: Guiomar Perez de Nanclares, Francesca Marta Elli, and Giovanna Mantovani

Individual ID	00456836
Associated disease	MPS
Diagnosis/Initial	mucopolysaccharidosis
Diagnosis/Definite	MPS2
Phenotype details	severe intellectual disability; epilepsy
Inheritance	Familial, X-linked recessive
Age/Examination	8y (8 years)
Age/Diagnosis	4y
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-10-29 15:26:43 +01:00 (CET)
Date last edited	N/A

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