Phenotype #0000143836

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00183080
Associated disease	MPS1
Phenotype details	11m diagnosed; 12y cognitive level of 8y after stem cell transplant
Diagnosis/Initial	mucopolysaccharidosis, type I
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MPS-1H
Age/Examination	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Marianne Hoogeveen-Westerveld
Database submission license
Created by	Johan den Dunnen
Date created	2018-10-12 22:30:04 +02:00 (CEST)
Date last edited	N/A

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