Phenotype #0000307340

Individual ID 00415560
Associated disease -
Phenotype details whole family description: history of nystagmus from infancy, marked photophobia, defective colour vision, poor visual acuity; fundus: mild foveal atrophic changes; visual impairment was non-progressive; one affected subject had electroretinography: normal rod responses but absent cone function
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite achromatopsia
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-08-15 14:16:04 +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.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.