Global Variome shared LOVD

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Phenotype #0000300500 Individual ID 00408374 Associated disease - Phenotype details progressive night blindness; fundus: macular degeneration, artery attenuation, pigment deposit, pale optic disc; electroretinography: no a or b wave response; no flicker response; best corrected visual acuity right, left eye: 6/3 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 28y (28 years) Age/Diagnosis - Age/Onset 6y Phenotype/Onset night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-20 20:24:55 +02:00 (CEST) Date last edited N/A

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