Global Variome shared LOVD

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Phenotype #0000260301 Individual ID 00364963 Associated disease - Phenotype details STGD was based on a recorded family history compatible with autosomal recessive inheritance, presence of bilateral impairment of central vision, atrophic macular lesions (a beaten-metal appearance or large patches of atrophy) with or without the appearance of perimacular and/or peripheral white-yellow flecks, and normal to subnormal electroretinogram (ERG). Diagnosis/Initial Stargardt disease Inheritance Unknown Diagnosis/Definite STGD1 Age/Examination - Age/Diagnosis - Age/Onset 13y 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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