Global Variome shared LOVD

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

Phenotype #0000280948 Individual ID 00387385 Associated disease - Phenotype details anterior subcapsular cataract, posterior pole choroidal atrophy, positive family history, BCVA OD/OS: 0.1/HM, blue color blindness Diagnosis/Initial Retinitis pigmentosa Inheritance Familial, autosomal dominant Diagnosis/Definite Retinitis pigmentosa Age/Examination 79y (79 years) Age/Diagnosis - Age/Onset 7y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-10-29 09:42:54 +02:00 (CEST) Date last edited N/A

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