Global Variome shared LOVD

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Phenotype #0000307651 Individual ID 00415879 Associated disease - Phenotype details best corrected visual acuity right, left eye: 0.3, 0.4; refraction right, left eye: -13.50-3.00x15deg, -13.50-3.00x170deg; nystagmus: yes; color vision deficiency: yes; night blindness: yes; fundus: slight foveal retinal pigment epithelium atrophy, myopic parapapillary crescent; progression: no Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite cone dystrophy with supernormal rod electroretinogram Age/Examination 24y (24 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-17 13:43:52 +02:00 (CEST) Date last edited N/A

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