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Bardet-Biedl syndrome 11

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Description

BBS11 was diagnosed in members of a single Israeli Bedouin family based on the presence of at least 3 of the following features: obesity, polydactyly, renal anomalies, retinopathy, hypogonadism, and learning disabilities (Chiang et al., 2006). 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

71

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Genes

External Links

  • OMIM

    615988

  • Orphanet
  • HPO
  • Medgen

    C1859569

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