Phenotype #0000298741

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00406243
Associated disease	-
Phenotype details	chief complaint: reduced visual acuity/ poor visual acuity, other ocular symptoms: photophobia, refraction right/left eye: -5 / -5, best corrected visual acuity right/left eye: 1.52 / 1.52, phenotype subgroup: cone-rod dystrophy (severe)
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	cone-rod dystrophy
Age/Examination	38y (38 years)
Age/Diagnosis	-
Age/Onset	7y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-03-26 15:11:34 +01:00 (CET)
Date last edited	N/A

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