Phenotype #0000307342

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00415562
Associated disease	-
Phenotype details	whole family description: history of nystagmus from infancy, marked photophobia, defective colour vision, poor visual acuity; fundus: mild foveal atrophic changes; visual impairment was non-progressive; one affected subject had electroretinography: normal rod responses but absent cone function
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	achromatopsia
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-15 14:16:04 +02:00 (CEST)
Date last edited	N/A