Phenotype #0000187773

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00248805
Associated disease	MLD
Phenotype details	juvenile, MRI brain pathological; cognitive and motor decline as first symptom
Diagnosis/Initial	metachromatic leukodystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MLD
Age/Examination	-
Age/Onset	07y
Age/Diagnosis	-
Phenotype/Onset	-
Protein	19.1 nmol/mg/h
Owner name	Alessandra Biffi
Database submission license	No license selected
Created by	Alessandra Biffi
Date created	2017-05-27 13:39:12 +02:00 (CEST)
Date last edited	N/A

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