Phenotype #0000130836

Global Variome shared LOVD

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

Individual ID	00165972
Associated disease	USH1
Phenotype details	profound congenital sensorineural deafness; 24y-retinitis pigmentosa on fundoscopy, confirmed by electroretinogram, impairment of balance, suffers from epilepsy
Diagnosis/Initial	Usher syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	USH1C
Age/Examination	24y (24 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Anne-Françoise Roux
Database submission license
Created by	Anne-Françoise Roux
Date created	2010-03-04 17:55:24 +01:00 (CET)
Date last edited	2020-03-06 17:12:25 +01:00 (CET)

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