Global Variome shared LOVD

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

Phenotype #0000299750 Individual ID 00407413 Associated disease - Phenotype details best corrected visual acuity right/left eye: Fix and follow inconsistently, refractive error (diopter): hyperopia (+6.0); fundus: granular-appearing fundus; normal optic nerve, electroretinogram: nondetectable, perimetry: not available, kidney findings: normal Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis Age/Examination 8y (8 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 2022-04-06 16:39:51 +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.