Phenotype #0000299894

Individual ID 00407764
Associated disease -
Phenotype details -
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite Leber congenital amaurosis / Senior-Lokan syndrome
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein proficient in Cep290-binding, could not be targeted to the centrosome, failed to rescue ciliogenesis
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-08 13:57:51 +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.