primary ciliary dyskinesia 28

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Disease Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene.


Synonyms

  • CILD28
  • SPAG1 primary ciliary dyskinesia
  • ciliary dyskinesia, primary, 28
  • ciliary dyskinesia, primary, 28, with or without situs inversus
  • ciliary dyskinesia, primary, type 28
  • primary ciliary dyskinesia 28 with or without situs inversus
  • primary ciliary dyskinesia caused by mutation in SPAG1
  • primary ciliary dyskinesia type 28

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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National Organization for Rare Disorders