Phenotype #0000054797

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00075022
Associated disease	CORD
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	12y
Phenotype/Onset	grey spot in the central field of vision
Phenotype details	cone-rod dystrophy (HP:0000510); dystrophy in the cone and rod systems, central scotoma and constriction of the peripheral visual field, funduscopy showed marked chorioretinal atrophy of the macula
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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