Phenotype #0000302166

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00410057
Associated disease	-
Phenotype details	best corrected visual acuity right, left eye: 20/32, 20/63, refraction right/left eye: +1.5/+3.25; Goldmann perimetry: moderately constricted, midperipheral; ocular features: and central sensitivity loss
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	S-cone syndrome, enhanced (ESCS, Goldmann-Favre syndrome)
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	2y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-18 12:58:53 +02:00 (CEST)
Date last edited	N/A

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