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Primary ciliary dyskinesia 14

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Description

Primary ciliary dyskinesia-14 is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (Merveille et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

105

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Genes

External Links

  • OMIM

    613807

  • Orphanet
  • HPO
  • Medgen

    C3151136

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