Phenotype #0000027528

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00034132
Associated disease	MLD
Phenotype details	juvenile, MRI brain pathological
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Onset	07y
Age/Diagnosis	-
Phenotype/Onset	-
Protein	3 nmol/mg/h (normal= 118.5)
Owner name	Alessandra Biffi
Database submission license	No license selected
Created by	SIB - Livia Famiglietti
Date created	2012-04-26 15:10:15 +02:00 (CEST)
Date last edited	2019-07-27 12:32:50 +02:00 (CEST)

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