Global Variome shared LOVD

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Phenotype #0000308246 Individual ID 00416526 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/32, 20/40; visual field (degrees across horizontal meridian): 18 deg / 18 deg - static Humphrey; electroretinogram: dark-adapted combined / mixed response wave values: 8.5; light-adapted response - flicker response wave values: 2.3 Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset 5y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-05 10:26:10 +02:00 (CEST) Date last edited N/A

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