Phenotype #0000250572

Individual ID 00332386
Associated disease -
Phenotype details horizontal jerk nystagmus; atropic macula; oculodigital sign; ERG extinguished
Diagnosis/Initial Leber congenital amaurosis
Inheritance Familial, autosomal recessive
Diagnosis/Definite LCA
Age/Examination 2y4m (2 years, 4 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-02-18 13:23:10 +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.