Global Variome shared LOVD

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

Phenotype #0000300126 Individual ID 00407996 Associated disease - Phenotype details best corrected visual acuity right; left eye: hand movements; hand movements (14y), visual field: Constricted both eyes, electroretinography: nonrecordable (12y) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite early onset retinal degeneration Age/Examination - Age/Diagnosis - Age/Onset 2y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-11 18:59:20 +02:00 (CEST) Date last edited N/A

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