Global Variome shared LOVD

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Phenotype #0000307664 Individual ID 00415892 Associated disease - Phenotype details best corrected visual acuity right, left eye: 0.1, 0.1; refraction right, left eye: -3.0-1.5x135deg, -1.25-1.0x10deg; nystagmus: yes; color vision deficiency: yes; night blindness: no; fundus: maculopathy (posterior pole); progression: no Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite cone dystrophy with supernormal rod electroretinogram Age/Examination 28y (28 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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