Global Variome shared LOVD

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Phenotype #0000260161 Individual ID 00364823 Associated disease - Phenotype details Exhibited a central form of cone dysfunction resembling occult macular dystrophy that preceded the development of lipofuscin flecks, atrophy of retinal pigment epithelium (RPE), or full-field electroretinography abnormalities. Final visual acuity was 20/80 (OD) and 20/70 (OS). Diagnosis/Initial Stargardt disease Inheritance Isolated (sporadic) Diagnosis/Definite STGD1 Age/Examination - Age/Diagnosis - Age/Onset 15y7m 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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