Phenotype #0000291735

Individual ID 00398652
Associated disease -
Phenotype details visual acuity left, right eye: fixes and follows, fixes and follows, retinoscopic refraction, spherical equivalent: +5.00, +3.50, fundus appearance: foveal pigment mottling, full-field electroretinography, scotopic/photopic: normal/nonrecordable, foveal hypoplasia, foveal ellipsoid zone: complete loss
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite achromatopsia
Age/Examination 10m
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 2022-01-08 20:21:17 +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.
  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.