Phenotype #0000292888

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00399788
Associated disease	-
Phenotype details	attenuated retinal bloodvessels and diffuse temporal pallor of the optic disc with evidence of diffuse RPE changes and dull foveal reflex
Diagnosis/Initial	rod cone dystrophy (arRCD)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-01-23 10:23:00 +01:00 (CET)
Date last edited	N/A

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