Global Variome shared LOVD

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Phenotype #0000055665 Individual ID 00075890 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases). Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset unknown Protein - Tumor/MSI - Diagnosis/Criteria - 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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