Global Variome shared LOVD

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Phenotype #0000055573 Individual ID 00075798 Associated disease CORD Inheritance Unknown Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset 12y Phenotype/Onset unknown Phenotype details cone-rod dystrophy (HP:0000510); initial symptoms of blurred central vision without a history of night blindness, impairment of color vision, and fundoscopic evidence of maculopathy without or with mild peripheral retinopathy, photopic b-wave impairment was greater than or equal to the scotopic b-wave amplitude impairment, at 50 years of age: OD count fingers, OS count fingers, Bull’s eye maculopathy, narrow vessels in periphery with mild granular changes of the pigment epithelium and confluent patches of chorioretinal atrophy, Severely disturbed color vision, Large, absolute, paracentral scotomas, relative scotoma centrally 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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