Global Variome shared LOVD

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Phenotype #0000317599 Individual ID 00426445 Associated disease - Phenotype details onset of night blindness: childhood; best corrected visual acuity right/left eye: 0.2/0.3; cataract; fundus appearance: intraretinal bone spicule pigments in four quadrants; visual field: constriction, central 20 degrees; electroretinogram: undetectable Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 41y (41 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 2022-11-30 12:31:10 +01:00 (CET) Date last edited N/A

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