Global Variome shared LOVD

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

Phenotype #0000228469 Individual ID 00301200 Associated disease - Phenotype details retinitis pigmentosa, visual field 10;10, no hepatic fibrosis, no skeletal malformations, normal heart, normal kidney Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 50y (50 years) Age/Diagnosis 6y Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-08 19:14:39 +02:00 (CEST) Date last edited N/A

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