Features include always present findings: Cerebellar vermis hypoplasia, Epicanthus, Decreased serum insulin-like growth factor 1, and Global developmental delay and others; and common findings: Strabismus, Short stature, Hypermetropia, and Low muscle tone (hypotonia) and others.

KIAA0753 encodes KIAA0753 (967 aa). Involved in centriole duplication. Positively regulates CEP63 centrosomal localization. Required for WDR62 centrosomal localization and promotes the centrosomal localization of CDK2. Highest expression in Esophagus Muscularis (26.9 TPM) and Testis (24.8 TPM).

Joubert syndrome 38 is associated with mutations in the KIAA0753 gene on chromosome 17.

KIAA0753 is classified as a druggable target with score 0.0.

Genetic testing for KIAA0753 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 8 always present features, 12 common features.

No clinical trials have been registered for Joubert syndrome 38.

6 publications have been identified in PubMed for Joubert syndrome 38. Research spans Epidemiology / Natural History (33%), Other (17%), and Review / Meta-Analysis (17%).

Recent Publications

• Aarts EM (2026). [PMID: 41715205](https://pubmed.ncbi.nlm.nih.gov/41715205/). *Genome Biol*. [Review / Meta-Analysis]

• Elmaoğlu E (2025). [PMID: 40750754](https://pubmed.ncbi.nlm.nih.gov/40750754/). *American journal of medical genetics. Part A*. [Epidemiology / Natural History]

• Goh YH (2024). [PMID: 39155132](https://pubmed.ncbi.nlm.nih.gov/39155132/). *Korean journal of ophthalmology : KJO*. [Case Report / Case Series]

• Orlova M (2024). [PMID: 39092430](https://pubmed.ncbi.nlm.nih.gov/39092430/). *Frontiers in genetics*. [Epidemiology / Natural History]

• Siegert S (2024). [PMID: 39181021](https://pubmed.ncbi.nlm.nih.gov/39181021/). *Pediatric neurology*. [Basic Science / Preclinical]