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Bardet-biedl syndrome 21

MONDO:0044308

BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900).

Also known as: BBS21, Bardet-Biedl syndrome 21

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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  • Scientists hunt for early warning signs of kidney failure in rare genetic diseases

    Knowledge-focused Completed

    This completed study collected blood and urine samples from 240 people with ciliopathies—rare genetic disorders that often lead to kidney failure. Researchers analyzed these samples to find biological markers that could predict how the disease will progress. The goal is to develo…

    Phase: NA • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused

    Last updated Jun 27, 2026 12:29 UTC

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