Primary Ciliary Dyskinesia (RSPH9)
Primary ciliary dyskinesia (RSPH9-related) is a rare respiratory system disorder caused by pathogenic variants in the gene RSPH9. In affected individuals, ciliary dysfunction results in chronic sinusitis and bronchiectasis, frequent bouts of pneumonia, and hearing loss associated with recurrent ear infections. Most infants require respiratory assistance in the first few weeks of life. Approximately half of all affected adult males are infertile due to sperm immobility. No clear genotype-phenotype correlation has been established.
For information about carrier frequency and residual risk, please see the residual risk table.