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primary ciliary dyskinesia 32 | RareConnect | RareConnect.io

/primary ciliary dyskinesia

/primary ciliary dyskinesia 32

primary ciliary dyskinesia 32

Rare Disease

MONDO:0014657

Also Known As

CILD32RSPH3 primary ciliary dyskinesiaciliary dyskinesia, primary, type 32primary ciliary dyskinesia 32 without situs inversusprimary ciliary dyskinesia caused by mutation in RSPH3primary ciliary dyskinesia type 32ciliary dyskinesia, primary, 32ciliary dyskinesia, primary, 32, without situs inversus

Definition

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 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:616481 ↗

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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