Phenotype #0000238626

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00314868
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	Healthy until 3.5 years then epilepsy with drop attacks, blindness (retinitis pigmentosa).
Inheritance	Familial, autosomal recessive
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	4y
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-10-20 15:09:17 +02:00 (CEST)
Date last edited	N/A

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