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primary ciliary dyskinesia 28 | RareConnect | RareConnect.io

/primary ciliary dyskinesia

/primary ciliary dyskinesia 28

primary ciliary dyskinesia 28

Rare Disease

MONDO:0014216

Also Known As

CILD28SPAG1 primary ciliary dyskinesiaciliary dyskinesia, primary, type 28primary ciliary dyskinesia 28 with or without situs inversusprimary ciliary dyskinesia caused by mutation in SPAG1primary ciliary dyskinesia type 28ciliary dyskinesia, primary, 28ciliary dyskinesia, primary, 28, with or without situs inversus

Definition

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 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:615505 ↗

GARD

Related Diseases

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ciliary dyskinesia with defective radial spokes

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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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