Phenotype #0000307708

Individual ID 00415937
Associated disease -
Phenotype details reason for referral: abnormal head position, head shaking, ny stagmus; best corrected visual acuity right, left eye: not available; no nyctalopia; refraction right, left eye: +3.00, +3.00; fundus: within normal limits; fundus autofluorescence: within normal limits (7y); comments: 7y: abnormal head position & head shaking & nystagmus gone; 20/200 both eyes; fine foveal granularity both eyes but autofluorescence within normal limits
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite cone dystrophy with supernormal rod electroretinogram
Age/Examination 2y (2 years)
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 2022-08-19 09:17:45 +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.