Global Variome shared LOVD

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Phenotype #0000054875 Individual ID 00075100 Associated disease STGD1 Phenotype details Stargardt disease; Central scotomas, bilateral, central macular atrophy that was more severe in the right eye, a zone of atrophy superonasal to the left optic disk, dense deposits of pigment at the level of the retinal pigment epithelium were present, left greater than right, and numerous yellow flecks were observed in the midperiphery. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 15y Phenotype/Onset progressive decline in visual acuity 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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