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A spectrum of ciliopathy disorders that typically show autosomal recessive inheritance and includes Al-Gazali-Bakalinova syndrome, hydrolethalus syndrome 2, acrocallosal syndrome, Joubert syndrome 12.
No clinical trials have been registered for KIF7-related ciliopathy.
6 publications have been identified in PubMed for KIF7-related ciliopathy. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Review / Meta-Analysis (17%).
Wongong R (2026). [PMID: 40935806](https://pubmed.ncbi.nlm.nih.gov/40935806/). *Am J Med Genet A*. [Review / Meta-Analysis]
Pedraza M (2025). [PMID: 40956303](https://pubmed.ncbi.nlm.nih.gov/40956303/). *Elife*. [Basic Science / Preclinical]
Chainaphaphorn P (2025). [PMID: 40774045](https://pubmed.ncbi.nlm.nih.gov/40774045/). *Int Dent J*. [Epidemiology / Natural History]
Deconte D (2024). [PMID: 39063141](https://pubmed.ncbi.nlm.nih.gov/39063141/). *Int J Mol Sci*. [Case Report / Case Series]
Ruiz-Matos SJ (2024). [PMID: 39036105](https://pubmed.ncbi.nlm.nih.gov/39036105/). *Cureus*. [Case Report / Case Series]
Xu K (2024). [PMID: 39446171](https://pubmed.ncbi.nlm.nih.gov/39446171/). *J Cell Biol*. [Basic Science / Preclinical]
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC
Common questions about KIF7-related ciliopathy