Phenotype #0000055568

Individual ID	00075793
Associated disease	CORD
Inheritance	Unknown
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	6y
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, nonrecordable ERG, at 30 years of age: Pigment clumping in the macula, Large central scotoma over 40°, OD count fingers, OS count fingers
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