Phenotype #0000304411

Global Variome shared LOVD

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

Individual ID	00412406
Associated disease	-
Phenotype details	visual acuity right; left eye: 0.5,0.5; fundus change: reduced foveal reflex, pigment deposit, pigment bone spicule-like; electroretinogram, rod: not available, cone: not available
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	32y (32 years)
Age/Diagnosis	-
Age/Onset	<8y
Phenotype/Onset	night blindness
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-06-27 22:34:38 +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.