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Bardet-Biedl syndrome 20

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Description

Bardet-Biedl syndrome-22 (BBS22) is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability (Lindstrand 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

0

Genes

External Links

  • OMIM

    617119

  • Orphanet
  • HPO
  • Medgen

    C4310707

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