Phenotype #0000301567

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00409450
Associated disease	BCD
Phenotype details	best corrected visual acuity right/left eye: 0.01/0.01; electroretinogram (rod): extinguished; electroretinogram (cone): extinguished
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	dystrophy, corneoretinal, crystalline, Bietti (BCD)
Age/Examination	35y (35 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-09 15:15:09 +02:00 (CEST)
Date last edited	N/A

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