Phenotype #0000297315

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00404740
Associated disease	-
Phenotype details	best corrected visual acuity right/left eye: 20/200, 20/40, fundus findings: right eye macular scar, left eye vitelliruptive lesion, electrooculography Arden ratios: not available, electroretinography: not available
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	autosomal recessive bestrophinopathy (ARB)
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	9y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-03-07 14:49:09 +01:00 (CET)
Date last edited	N/A

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