Global Variome shared LOVD

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Phenotype #0000300494 Individual ID 00408368 Associated disease - Phenotype details best corrected visual acuity: 20/300; primary: orthotropia; fundus: grossly normal except vessel attenuation (peripheral changes); cycloplegic retinoscopy: +2.50, +2.50; electroretinography scotopic: non-recordable, photopic: depressed and delayed Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite rod-cone dystrophy Age/Examination 7y (7 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 2022-04-20 18:49:08 +02:00 (CEST) Date last edited N/A

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