Phenotype #0000232101

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00306255
Associated disease	leukoencephalopathy
Diagnosis/Initial	leukoencephalopathy
Diagnosis/Definite	LCC
Phenotype details	16y-deceased; significant developmental delay and seizures; progressive neurological decline
Inheritance	Familial, autosomal recessive
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	1y
Phenotype/Onset	significant developmental delay and seizures
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-07-13 19:04:44 +02:00 (CEST)
Date last edited	N/A

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