Phenotype #0000343313

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Carmel Toomes

Individual ID	00454681
Associated disease	-
Phenotype details	see paper; ...
Diagnosis/Initial	non-syndromic inherited retinal degeneration
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	JBTS1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-09-25 10:36:03 +02:00 (CEST)
Date last edited	N/A

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