CEP290 ciliopathyBBS14Bardet-Biedl syndrome 14Bardet-Biedl syndrome type 14CEP290 Joubert syndromeCEP290 Leber congenital amaurosisCEP290 Meckel syndromeCEP290 Senior-Loken syndromeJBTS5Joubert syndrome 5Joubert syndrome caused by mutation in CEP290Joubert syndrome type 5LCA10Leber congenital amaurosis 10Leber congenital amaurosis caused by mutation in CEP290Leber congenital amaurosis type 10MKS4Meckel syndrome 4Meckel syndrome caused by mutation in CEP290Meckel syndrome, type 4Meckel-Gruber syndrome, type 4Meckel-like Cerebrorenodigital syndromeSENIOR-Loken syndrome 6SLSN6Senior-Loken syndrome 6Senior-Loken syndrome caused by mutation in CEP290Senior-Loken syndrome type 6amaurosis congenita of Leber, type 10
Definition
A ciliopathy caused by biallelic variants in the CEP290 gene.
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