Global Variome shared LOVD

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

Phenotype #0000302610 Individual ID 00410506 Associated disease - Phenotype details decade of life: 30s; presenting symptoms (duration of symptoms, years): central visual loss (more than25y); visual acuity, logMAR: counting fingers both eyes; severity of phenotype: severe panretinal dystrophy; other ophthalmic features: none Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite cone-rod dystrophy Age/Examination <18y (before 18 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 2022-05-27 19:56:51 +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.