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CEP290-related ciliopathy

MONDO:0100451

A ciliopathy caused by biallelic variants in the CEP290 gene.

Also known as: CEP290 ciliopathy, BBS14, Bardet-Biedl syndrome 14, Bardet-Biedl syndrome type 14, CEP290 Joubert syndrome, CEP290 Leber congenital amaurosis, CEP290 Meckel syndrome, CEP290 Senior-Loken syndrome

2 clinical trials for this condition and its sub-types.

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Sub-types

Leber congenital amaurosis 10 (2) Bardet-Biedl syndrome 14 (0) Joubert syndrome 5 (0) Meckel syndrome, type 4 (0) Senior-Loken syndrome 6 (0)

Broader categories

Disease (717) Hereditary disease (188) Human disease (15) Ciliopathy (2) Disease by molecular mechanism (2) Disease of genetic or genomic mechanism (2) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)
Trials to join now! 1 Not yet finished but already full! 1
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