Global Variome shared LOVD

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

Phenotype #0000315329 Individual ID 00424122 Associated disease - Phenotype details age, first / last exam: 18 / 22; visual acuity right eye first; last visit, left eye first; last visit20/25, 20/25; 20/30, 20/25; kinetic visual fields (V4e): central scotoma through I3e both eyes; V4e full; full field electroretinography: rods: nondetectable, cones: severely depressed Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite cone-rod dystrophy Age/Examination - Age/Diagnosis - Age/Onset 12y Phenotype/Onset nyctalopia Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-11-17 13:39:56 +01:00 (CET) Date last edited N/A

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