Global Variome shared LOVD

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

Phenotype #0000307895 Individual ID 00416129 Associated disease - Phenotype details best corrected visual acuity right/left eye: 0.2/0.3; electroretinogram signals, scotopic: normal, photopic: absent; color vision: impaired; optical coherence tomography: retinal pigment epithelium, outer segments of the photoreceptors absent, outer limiting membrane present, , inner limiting membrane present, ; nystagmus, past: yes, at present: not available; photophobia: yes Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 27y (27 years) Age/Diagnosis - Age/Onset 4m Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-23 17:29:26 +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.