Global Variome shared LOVD

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

Phenotype #0000304409 Individual ID 00412404 Associated disease - Phenotype details visual acuity right; left eye: 1.2,1.5; fundus change: normal; electroretinogram, rod: undetectable, cone: reduced markedly Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset <8y Phenotype/Onset night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-06-27 22:34:38 +02:00 (CEST) Date last edited N/A

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