has material basis in germline mutation in CEP290 ciliopathy CEP290-related ciliopathy https://github.com/monarch-initiative/mondo/issues/3898 MKS4 Meckel-like Cerebrorenodigital syndrome Meckel syndrome 4 CEP290 Senior-Loken syndrome CEP290 Joubert syndrome SLSN6 JBTS5 Meckel syndrome, type 4 amaurosis congenita of Leber, type 10 Joubert syndrome caused by mutation in CEP290 CEP290 ciliopathy Leber congenital amaurosis type 10 SENIOR-Loken syndrome 6 GARD:0026225 CEP290 Meckel syndrome A ciliopathy caused by biallelic variants in the CEP290 gene. Joubert syndrome type 5 Meckel syndrome caused by mutation in CEP290 Senior-Loken syndrome caused by mutation in CEP290 CEP290 Leber congenital amaurosis Senior-Loken syndrome 6 Senior-Loken syndrome type 6 Leber congenital amaurosis caused by mutation in CEP290 LCA10 Bardet-Biedl syndrome type 14 Joubert syndrome 5 BBS14 MONDO:0100451 Leber congenital amaurosis 10 Meckel-Gruber syndrome, type 4 Bardet-Biedl syndrome 14