Phenotype #0000027550

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00034154
Associated disease	MLD
Phenotype details	late Infantile, peripheral neuropathy as first symptom, normal cognitive performance
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Onset	50y
Age/Diagnosis	-
Phenotype/Onset	-
Protein	0.03 nmol/mg/min (normal= 0.77-1)
Owner name	Alessandra Biffi
Database submission license
Created by	Johan den Dunnen
Date created	2015-03-13 17:42:21 +01:00 (CET)
Date last edited	2019-07-27 12:32:50 +02:00 (CEST)

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