Features include always present findings: Chronic rhinitis, Bronchiectasis, Male infertility, and Reduced sperm motility and others; and common findings: Situs inversus totalis, Decreased nasal nitric oxide, and Oligozoospermia.

BRWD1 encodes bromodomain and WD repeat domain containing 1 (2,320 aa). May be a transcriptional activator. May be involved in chromatin remodeling. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape Highest expression in Testis (18.5 TPM) and Nerve Tibial (18.3 TPM).

Ciliary dyskinesia, primary, 51 is associated with mutations in the BRWD1 gene on chromosome 21.

The BRWD1 protein participates in BRWD1 gene expression is repressed by STAT5, 2x(p-STAT5A,p-STAT5B):BRWD1 gene, and BRWD1:AcK9,14-pS10-histone H3 pathways.

BRWD1 is classified as a druggable target with score 0.0.

Genetic testing for BRWD1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for ciliary dyskinesia, primary, 51 has been reported in the published literature.

Phenotype severity distribution: 11 always present features, 3 common features.

No clinical trials have been registered for ciliary dyskinesia, primary, 51.

17 publications have been identified in PubMed for ciliary dyskinesia, primary, 51. Research spans Review / Meta-Analysis (36%), Diagnostic / Biomarker (29%), and Epidemiology / Natural History (21%).