Global Variome shared LOVD

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Phenotype #0000055508 Individual ID 00075733 Associated disease STGD1 Phenotype details Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions, consisting of pigmentary changes and macular atrophy with the beaten bronze appearance or a patch of atrophy in advanced cases, OD 20/100, OS 20/100 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 10y Phenotype/Onset - Protein - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2016-02-22 12:22:09 +01:00 (CET) Date last edited N/A

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