Global Variome shared LOVD

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

Phenotype #0000348669 Individual ID 00461169 Associated disease OPA Phenotype details see paper; ..., subcute onset; best corrected visual acuity (first visit) OD 0.03/OS light perception; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD, SRV/OS diffuse pale optic disc, ARV, sand-like retinal degeneration, SRV; electrophysiology severely reduced (rod/cone); bilateral nystagmus; hypotonia Diagnosis/Initial optic atrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset 5y Phenotype/Onset - Birth_Details - MotorSkills - Vision/Abnormality - Hearing/Loss - Eye/Optic_Disc - Protein - Brain/Imaging - Eye/OCT - Vision/Field - Vision/Acuity - Vision/Colour - Habits - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-01-31 10:20:27 +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.