Phenotype #0000067418

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00087892
Associated disease	RPar
Phenotype details	Attenuated retinal vessels, minimal pigmented retinopathy with temporal disc pallor and annuli of yellow deposits on the macula, bulles eye appearance of macula, myopia
Diagnosis/Initial	retinitis pigmentosa
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	20y
Phenotype/Onset	Show myopic refractive errors,Poor dark adaptation, Visual field defect.
Protein	-
Owner name	Raheel Qamar
Database submission license	No license selected
Created by	Raheel Qamar
Date created	2012-09-06 09:49:02 +02:00 (CEST)
Date last edited	2020-09-04 12:50:01 +02:00 (CEST)