Phenotype #0000305778

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00413813
Associated disease	-
Phenotype details	myopia, a decrease in visual acuity, abnormal oscillatory potentials, and reduced amplitudes on the 30 Hz flicker ERG but was atypical because there were no clear electronegative responses
Diagnosis/Initial	cone dystrophy (CD)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	9y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-07-22 03:34:11 +02:00 (CEST)
Date last edited	N/A

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