Phenotype #0000055529

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00075754
Associated disease	CORD
Inheritance	Unknown
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	<41y
Phenotype/Onset	unknown
Phenotype details	cone-rod dystrophy (HP:0000510); Reduced acuity at an early age, peripheral field loss, loss of cone ERG responses at a rate equal to or greater than the loss of rod responses, OD 20/30, OS 20/40, diffuse chorioretinal atrophy in the macula, drusen in the periphery
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

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