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Any ciliopathy caused by variants in the CEP164 gene. This disease is characterized by a broad range of phenotypes including various combinations of nephronophthisis, respiratory system impact, retinal degeneration, developmental delay, CNS malformations, polydactyly, bronchiectasis and obesity.
No clinical trials have been registered for CEP164-related ciliopathy.
2 publications have been identified in PubMed for CEP164-related ciliopathy. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).
Wang W (2025). [PMID: 40192002](https://pubmed.ncbi.nlm.nih.gov/40192002/). *J Clin Lab Anal*. [Basic Science / Preclinical]
Lacigová A (2025). [PMID: 40062413](https://pubmed.ncbi.nlm.nih.gov/40062413/). *Cytoskeleton (Hoboken)*. [Review / Meta-Analysis]
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 8:50 PM UTC
Common questions about CEP164-related ciliopathy