Phenotype #0000276718

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00382862
Associated disease	-
Phenotype details	severe condition; nystagmus and night blindness (4y); severely constricted peripheral visual field, attenuated retinal vessels, diffuse depigmentation of the retinal pigment epithelium and numerous pigment deposits on the retina including in the macular area (30y)
Diagnosis/Initial	recessive retinitis pigmentosa (RP)
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	30y (30 years)
Age/Diagnosis	-
Age/Onset	4y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2021-09-13 01:01:20 +02:00 (CEST)
Date last edited	N/A

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