Global Variome shared LOVD

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Phenotype #0000265202 Individual ID 00369864 Associated disease - Phenotype details Inclusion criteria were a diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing, or at least two pathogenic mutations in the ABCA4 gene. The exclusion criteria were history of concurrent retinal disease of other etiology, or presence of motion or media-opacity artifact in the OCTA image. Diagnosis/Initial Stargardt disease Inheritance Unknown Diagnosis/Definite STGD1 Age/Examination - Age/Diagnosis - Age/Onset <50y Phenotype/Onset unknown Protein - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2021-05-03 14:25:36 +02:00 (CEST) Date last edited N/A

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