Variants
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Primary ciliary dyskinesia 16

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Description

Primary ciliary dyskinesia-16 (CILD16) is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with absence of ciliary outer dynein arms (Mazor 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

28

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Genes

External Links

  • OMIM

    614017

  • Orphanet
  • HPO
  • Medgen

    C3151460

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