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Bardet-Biedl syndrome 14

rare

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

Identifiers
MONDO:0014442 OMIM:615991
Part of
Bardet-Biedl syndromeCEP290-related ciliopathy
Also known as
Bardet-Biedl syndrome 14, modifier of · Bardet-Biedl syndrome type 14 · BBS14

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