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primary ciliary dyskinesia 18 | RareConnect | RareConnect.io

/primary ciliary dyskinesia

/primary ciliary dyskinesia 18

primary ciliary dyskinesia 18

Rare Disease

MONDO:0013940

Also Known As

CILD18DNAAF5 primary ciliary dyskinesiaciliary dyskinesia, primary, type 18primary ciliary dyskinesia 18 with or without situs inversusprimary ciliary dyskinesia caused by mutation in DNAAF5primary ciliary dyskinesia type 18ciliary dyskinesia, primary, 18ciliary dyskinesia, primary, 18, with or without situs inversus

Definition

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:614874 ↗

GARD

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ciliary dyskinesia with excessively long cilia

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Stromme syndrome

MONDO:0009477

primary ciliary dyskinesia 1

MONDO:0009484

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