Phenotype #0000233311

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00307888
Associated disease	CLN3
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	09y
Age/Onset	06y
Phenotype/Onset	-
Phenotype details	Abnormal retinal morphology, Visual impairment, Visual loss, Seizures, Generalized tonic-clonic seizures, Developmental regression, Abnormality of the periventricular white matter, Foveal atrophy
Protein	-
Owner name	Corina-Marcela Rus
Database submission license	No license selected
Created by	Corina-Marcela Rus
Date created	2020-08-20 08:24:48 +02:00 (CEST)
Date last edited	2020-08-23 15:27:55 +02:00 (CEST)

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