Phenotype #0000116652

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00143874
Associated disease	-
Phenotype details	Age 42; visual acuity R=20/25, L=20/25; Waxy pallor of the optic disc, attenuated retinal vasculature, generalized chorioretinal atrophy, mild bone spicule pigmentation clustered in periphery
Diagnosis/Initial	retinitis pigmentosa
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	22y
Phenotype/Onset	-
Protein	-
Owner name	Rob W.J. Collin
Database submission license
Created by	Johan den Dunnen
Date created	2017-11-28 22:45:32 +01:00 (CET)
Date last edited	2020-08-25 10:48:31 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.