Global Variome shared LOVD

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Phenotype #0000302164 Individual ID 00410055 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/125, 20/125, refraction right/left eye: +4.75/+6.50; Goldmann perimetry: moderately constricted, midperipheral and central sensitivity loss; ocular features: divergent strabismus Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite S-cone syndrome, enhanced (ESCS, Goldmann-Favre syndrome) Age/Examination 29y (29 years) Age/Diagnosis - Age/Onset 10y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-18 12:58:53 +02:00 (CEST) Date last edited N/A

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