Global Variome shared LOVD

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Phenotype #0000270186 Individual ID 00374976 Associated disease - Phenotype details 23y-night blindenss, diminished visual acuity (23y), diminished visual field (36y); best corrected visual acuity 0.6/0.5; slightly pale optic disc, retina vessels attenuation and bone spicule pigmentation, normal macula; cataract 30 y, bilateral sensorineural hearing impairment (7y) Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 34y (34 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-05-27 16:02:07 +02:00 (CEST) Date last edited N/A

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