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GTR Home > Conditions/Phenotypes > Primary ciliary dyskinesia 17

Primary ciliary dyskinesia 17

Synonyms
CILIARY DYSKINESIA, PRIMARY, 17, WITH OR WITHOUT SITUS INVERSUS; Primary Ciliary Dyskinesia17: CCDC103-Related Primary Ciliary Dyskinesia

Summary

Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable (summary by Panizzi et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Available tests

52 tests are in the database for this condition.

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Clinical tests (52 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CILD17, PR46b, SMH, CCDC103
    Summary: coiled-coil domain containing 103

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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