Phenotype #0000055571

Individual ID	00075796
Associated disease	CORD
Inheritance	Unknown
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	7y
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 15 years of age: OD 20/200, OS 20/200, Granular aspect of the macula, Concentric central scotoma of 8°
Protein	-
Owner name	Stéphanie Cornelis
Database submission license
Created by	Stéphanie Cornelis
Date created	2016-02-22 12:22:09 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD