Global Variome shared LOVD

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

Phenotype #0000291603 Individual ID 00398477 Associated disease - Phenotype details visual acuity right/left eye: 0.125/0.125, cone electroretinography response: absent, color vision: none, photophobia, nystagmus Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite complete achromatopsia Age/Examination 13y (13 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 2022-01-05 12:11:46 +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.