Phenotype #0000232104

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00306258
Associated disease	leukoencephalopathy
Diagnosis/Initial	leukoencephalopathy
Diagnosis/Definite	LCC
Phenotype details	failure to achieve motor milestones; progressive spasticity and dystonia with complete loss of speech
Inheritance	Familial, autosomal recessive
Age/Examination	22y (22 years)
Age/Diagnosis	-
Age/Onset	2y
Phenotype/Onset	failure to achieve motor milestones
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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