Global Variome shared LOVD

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Phenotype #0000305704 Individual ID 00413739 Associated disease - Phenotype details central macular pigment epithelial atrophy in both eyes and the degree of atrophy was lower in the right eye; mild macular atrophy, and a marked disruption of the foveal outer retinal structure was present in both eyes; prolonged pVEP latency and reduced amplitudes in both eyes. Diagnosis/Initial simplex Leber congenital amaurosis (LCA) Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-07-22 03:34:11 +02:00 (CEST) Date last edited N/A

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