Global Variome shared LOVD

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Phenotype #0000057320 Individual ID 00077545 Associated disease CORD Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination - Diagnosis/Definite 40y Age/Diagnosis - Age/Onset 10y Phenotype/Onset initial reports of blurred central vision without a history of night blindness Phenotype details cone-rod dystrophy (HP:0000510); poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude. 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 2021-05-27 14:31:01 +02:00 (CEST)

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