Global Variome shared LOVD

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

Phenotype #0000298778 Individual ID 00406280 Associated disease - Phenotype details best corrected visual acuity right/left eye: 0.1/0.04, night blindness, spherical refraction right/left eye: -2.0D/-10.5D, fundus: mild retinal pigment epithelium abnormalities at the macula, optical coherence tomography total retinal thickness right/left eye: 20/30, electroretinography: reduction in cone and rod responses Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite cone-rod dystrophy Age/Examination 23y (23 years) Age/Diagnosis - Age/Onset 5y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-03-27 15:44:55 +02:00 (CEST) Date last edited N/A

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