A ciliopathy caused by biallelic variants in the CEP290 gene. [ https://clinicalgenome.org/affiliation/40072/ ]
Synonyms: CEP290-related ciliopathy CEP290 ciliopathy
Term information
rare, inferred_rare, clingen
Bardet-Biedl syndrome 14
LCA10
CEP290 Joubert syndrome
CEP290 Leber congenital amaurosis
Senior-Loken syndrome 6
SENIOR-Loken syndrome 6
Joubert syndrome 5
Joubert syndrome type 5
Meckel-Gruber syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome caused by mutation in CEP290
CEP290 Meckel syndrome
Meckel syndrome caused by mutation in CEP290
Leber congenital amaurosis type 10
Joubert syndrome caused by mutation in CEP290
Meckel syndrome, type 4
CEP290 Senior-Loken syndrome
JBTS5
amaurosis congenita of Leber, type 10
Senior-Loken syndrome type 6
SLSN6
BBS14
Meckel syndrome 4
Leber congenital amaurosis caused by mutation in CEP290
Meckel-like Cerebrorenodigital syndrome
Bardet-Biedl syndrome type 14
MKS4