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Primary ciliary dyskinesia 5

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Description

CILD5 is an autosomal recessive disorder characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus (summary by Olbrich et al., 2012).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

17

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Genes

External Links

  • OMIM

    608647

  • Orphanet
  • HPO
  • Medgen

    C1837615

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