Variants
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Bardet-biedl syndrome 21

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Description

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

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

4

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Genes

External Links

  • OMIM

    617406

  • Orphanet
  • HPO
  • Medgen

    C4319932

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