Phenotype #0000039333

Individual ID	00052756
Associated disease	CORD
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	6y
Phenotype/Onset	fine oscillatory nystagmus was described. There was a moderate hypermetropic in both eyes. Some form of ocular albinism was suspected
Phenotype details	cone-rod dystrophy; slightly increased granularity in the macula, together with decreased muscular reflex, minimal thinning of the retinal arteries and increased granularity of the RPE in the periphery, together with a very blond fundus in the circumpapillary area
Protein	-
Owner name	Muhammad Ajmal
Database submission license	No license selected
Created by	Muhammad Ajmal
Date created	2015-10-26 17:05:36 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD