Global Variome shared LOVD

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

Phenotype #0000307544 Individual ID 00415766 Associated disease - Phenotype details refraction/astigmatism: -4.0/-4.0; best corrected visual acuity: 0.05; nystagmus; fundus: bull's eye maculopathy Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite cone dystrophy Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-15 20:20:14 +02:00 (CEST) Date last edited N/A

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