Phenotype #0000300511

Global Variome shared LOVD

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

Individual ID	00408385
Associated disease	-
Phenotype details	progressive night blindness; fundus: macular degeneration, artery attenuation, pigment deposit, pale optic disc; electroretinography: no a or b wave response; no flicker response; best corrected visual acuity right, left eye: 6/2
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	21y (21 years)
Age/Diagnosis	-
Age/Onset	8y
Phenotype/Onset	night blindness
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-20 20:24:55 +02:00 (CEST)
Date last edited	N/A

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