Phenotype #0000291612

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00398486
Associated disease	-
Phenotype details	visual acuity right/left eye: 0.16/0.16, cone electroretinography response: absent, color vision: data not available, photophobia: data not available, nystagmus: data not available
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	achromatopsia
Age/Examination	46y (46 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-01-05 12:11:46 +01:00 (CET)
Date last edited	N/A

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