Variants
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Bardet-Biedl syndrome 14

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Description

BBS14 is an autosomal recessive ciliopathy described in a single patient with features of retinitis pigmentosa, obesity, mental retardation, and renal disease (Leitch et al., 2008). 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

164

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Genes

External Links

  • OMIM

    615991

  • Orphanet
  • HPO
  • Medgen

    C2673874

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