Phenotype #0000245278

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00326802
Associated disease	COD
Phenotype details	photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), reduced visual acuity (HP:0007663), Dyschromatopsia (HP:0007641), Absent rod-and cone-mediated responses on ERG (HP:0007688)
Diagnosis/Initial	cone dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	20y (20 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	photophobia (HP:0000613)
Protein	-
Owner name	Jens Doets
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2021-01-15 14:21:47 +01:00 (CET)
Date last edited	N/A

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