Global Variome shared LOVD

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

Phenotype #0000291414 Individual ID 00398290 Associated disease - Phenotype details best-corrected visual acuity right/left eye: 0.1/0.1, refraction: .75/ .5, cone electroretinography: strongly reduced response, color vision: abnormal, photophobia, mild nystagmus Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Incomplete achromatopsia Age/Examination 63y (63 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 2022-01-03 16:29:56 +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.