Phenotype #0000299898

Individual ID 00407768
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 failed to interact with CaM, deficient in Cep290-binding, mislocalised, 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.