Global Variome shared LOVD

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

Phenotype #0000314441 Individual ID 00423236 Associated disease - Phenotype details uncorrected visual acuity(logMAR): 1.60+/-0.17, 1.28+/-0.10; best-corrected visual acuity (refraction)1(-7.50DS/-2.50DCx175deg), 1(-6.75DS/-3.00DCx170deg); color vision defects: severe; other signs: photophobia, nystagmus; electroretinography (ERG) right/left eye: scotopic 0.01 ERG, b-wave (mv): mild decline/ mild decline, photopic 3.0 ERG, a-wave (mv): moderate decline/ moderate decline, b-wave (mv): moderate decline/ moderate decline Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset 4y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-11-14 11:51:40 +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.