Phenotype #0000016801

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00018449
Associated disease	MLD
Phenotype details	juvenile MLD, diagnosed clinically and biochemically; GS 280 nmoles/mg lipid (normal=2+/-1)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Onset	03y
Age/Diagnosis	-
Phenotype/Onset	-
Protein	9 nmol/mg/hr (normal=137+/-53)
Owner name	Martina Cesani
Database submission license	No license selected
Created by	Martina Cesani
Date created	2014-07-18 15:47:02 +02:00 (CEST)
Date last edited	2019-07-27 12:32:50 +02:00 (CEST)

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