Global Variome shared LOVD

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Phenotype #0000300151 Individual ID 00408021 Associated disease - Phenotype details best corrected visual acuity right; left eye: 20/40; 20/60 (10y), visual field: Moderate central defects and severe peripheral defects, electroretinography: Isolated rods not done but bright flash nonrecordable, barely recordable cones (10y) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite early onset retinal degeneration Age/Examination - Age/Diagnosis - Age/Onset 4y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-11 18:59:20 +02:00 (CEST) Date last edited N/A

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