Phenotype #0000292885

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00399785
Associated disease	-
Phenotype details	Dark-adapted and light-adapted ERG suggestive of extinguished rod and cone responses in the right eye and diminished responses in the left eye.It indicated mild form of rod-cone dystrophy,hence assigning him as disease carrier.
Diagnosis/Initial	retinitis pigmentosa
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	47y (47 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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