Phenotype #0000344872

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00456357
Associated disease	MPS
Diagnosis/Initial	Hurler syndrome
Diagnosis/Definite	MPS1-H
Phenotype details	corneal clouding, coarse facial features, dysostosis multiplex, intellectual disability
Inheritance	Familial, autosomal recessive
Age/Examination	2y (2 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-10-25 15:49:01 +02:00 (CEST)
Date last edited	N/A

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