Global Variome shared LOVD

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

Phenotype #0000275815 Individual ID 00381973 Associated disease - Phenotype details visual acuity : od: 0.16 os: 0.125; fundus: macula dystrophic, outer periphery with pigment irregularities; color vision: severely impaired; electroretinography: scotopic: normal, photopic: no response; photophobia: yes; nystagmus : yes; progression: no Diagnosis/Initial achromatopsia Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 53y (53 years) Age/Diagnosis - Age/Onset 0y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-09-06 15:38:00 +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.