Phenotype #0000277264

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00383479
Associated disease	CLN
Phenotype details	retinal dysfunction on ERG, VEP results: normal
Diagnosis/Initial	lipofuscinosis, ceroid, neuronal, type 3 (CLN3)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-09-29 11:58:04 +02:00 (CEST)
Date last edited	N/A

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