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primary ciliary dyskinesia 12 | RareConnect | RareConnect.io

/primary ciliary dyskinesia

/primary ciliary dyskinesia 12

primary ciliary dyskinesia 12

Rare Disease

MONDO:0012979

Also Known As

CILD12RSPH9 primary ciliary dyskinesiaciliary dyskinesia, primary, type 12primary ciliary dyskinesia 12 without situs inversusprimary ciliary dyskinesia caused by mutation in RSPH9primary ciliary dyskinesia type 12ciliary dyskinesia, primary, 12ciliary dyskinesia, primary, 12, without situs inversus

Definition

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 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:612650 ↗

GARD

Related Diseases

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ciliary dyskinesia with defective radial spokes

MONDO:0009449

ciliary dyskinesia with excessively long cilia

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Stromme syndrome

MONDO:0009477

primary ciliary dyskinesia 1

MONDO:0009484

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