Phenotype #0000187575

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00248607
Associated disease	MLD
Phenotype details	adult; peripheral neuropathy as first symptom; normal cognitive performance
Diagnosis/Initial	metachromatic leukodystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MLD
Age/Examination	-
Age/Onset	32y
Age/Diagnosis	-
Phenotype/Onset	-
Protein	0.02 nmol/mg/min (normal= 0.77-1)
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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