Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000300015 Individual ID 00407885 Associated disease - Phenotype details best corrected visual acuity right/left eye: both eyes 0.3, fundus: pale papilla, mild vessel constriction, pigmentation in periphery and posterior pole, electroretinogram: not performed Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 21y (21 years) Age/Diagnosis - Age/Onset 3y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-09 22:56:34 +02:00 (CEST) Date last edited N/A

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