Phenotype #0000314459

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00423252
Associated disease	-
Phenotype details	best corrected visual acuity right/left eye: 0.5 / 0.4; night blindness: not until 47y; photophobia: yes; color vision defect: yes, predominantly tritan defects
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	cone-rod dystrophy
Age/Examination	47y (47 years)
Age/Diagnosis	-
Age/Onset	12y
Phenotype/Onset	photophobia and scotomas
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-11-14 15:26:54 +01:00 (CET)
Date last edited	N/A

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