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Bardet-Biedl syndrome 14

MONDO:0014442

A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21.

Also known as: BBS14, Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14, modifier of, Bardet-Biedl syndrome type 14

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

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Broader categories

Disease (618) Hereditary disease (172) Syndromic disease (24) Human disease (14) Bardet-Biedl syndrome (6) Autosomal recessive disease (4) Ciliopathy (2) Disease by molecular mechanism (2) Disease of genetic or genomic mechanism (2) Autosomal genetic disease (0)
Trials to join now! 1 Completed 1
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