Phenotype #0000343923

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00455348
Associated disease	MPS
Diagnosis/Initial	mucopolysaccharidosis
Diagnosis/Definite	MPS2
Phenotype details	intermediate; typical features, delayed speech development
Inheritance	Familial, X-linked recessive
Age/Examination	14y (14 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-10-07 23:06:36 +02:00 (CEST)
Date last edited	2024-10-08 15:48:29 +02:00 (CEST)

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