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GTR Home > Conditions/Phenotypes > Ciliary dyskinesia, primary, 39

Summary

Primary ciliary dyskinesia-39 (CILD39) is an autosomal recessive disorder characterized by chronic sinopulmonary infections beginning soon after birth and laterality defects in about 50% of patients. Although patient nasal ciliary samples have normal structure, detailed studies may show ciliary kinetic defects in some patients (summary by Bonnefoy et al., 2018). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CILD39, DNAAF12, oda8, LRRC56
    Summary: leucine rich repeat containing 56

Clinical features

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