Phenotype #0000299896

Individual ID 00407766
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 deficient in Cep290-binding, normally 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

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