Global Variome shared LOVD

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

Phenotype #0000294928 Individual ID 00402165 Associated disease - Phenotype details age of night blindness onset: 15y, age of hearing loss onset: 5y, best corrected visual acuity right/left eye: 0.6/0.8, refraction right, left eye: -2.25/-2.75*160-1.75/-2.50*5, central visual field diameter (degrees): 10-20deg, electroretinogram: rod response unrecordable, cone response severely reduced Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Usher syndrome type 2A Age/Examination 21y (21 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-02-04 13:28:22 +01:00 (CET) Date last edited N/A

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