Global Variome shared LOVD

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

Phenotype #0000291830 Individual ID 00398748 Associated disease - Phenotype details nystagmus, photophobia, poor vision, best corrected visual acuity right/left eye: 0.05/0.05, fundi appearance: poor foveal reflex Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Achromatopsia Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset 2m Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-01-11 13:54:47 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.