Global Variome shared LOVD

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

Phenotype #0000291444 Individual ID 00398321 Associated disease - Phenotype details photophobia and visual loss in both eyes; bilateral 5-deg central scotomas; BCVA was 0.1 in both eyes, and refractions were 2.75 cylinder 10 deg in the right eye and 1.25 sphere, 3.00 cylinder 270 deg in the left eye Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Achromatopsia Age/Examination - 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 2022-01-04 13:28:31 +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.