Phenotype #0000132917

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00168053
Associated disease	epilepsy
Phenotype details	see paper; ..., infantile-onset symptomatic epilepsy syndrome, developmental stagnation, blindness
Diagnosis/Initial	infantile-onset symptomatic epilepsy syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	SPDRS
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-07-18 08:53:33 +02:00 (CEST)
Date last edited	N/A

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