Global Variome shared LOVD

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

Phenotype #0000307719 Individual ID 00415948 Associated disease - Phenotype details best corrected visual acuity right, left eye: 0.16, 0.16; refraction right, left eye: -5.0/-1.5x2deg-3.5/-1.0x6deg; no night blindness; color vision: achromat; no nystagmus ; strabismus; photophobia and a prolonged light adaptation Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite cone dystrophy with supernormal rod electroretinogram Age/Examination 28y (28 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 2022-08-19 10:13:30 +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.