Phenotype #0000089900

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00114418
Associated disease	MPS2
Phenotype details	intermediate, typical features, decline in ability to speak
Diagnosis/Initial	mucopolysaccharidosis
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	MPS2
Age/Examination	05y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2009-11-28 19:57:45 +01:00 (CET)
Date last edited	2024-10-08 15:38:30 +02:00 (CEST)

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