Features include always present findings: Nyctalopia, Ataxia, Elongated superior cerebellar peduncle, and Molar tooth sign on MRI and others; and common findings: Recurrent urinary tract infections and Abnormality of temperature regulation. 25 total HPO annotations.

ARL3 encodes ARF like GTPase 3 (182 aa). Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). Highest expression in Brain Cerebellar Hemisphere (57.2 TPM) and Brain Cerebellum (51.7 TPM).

Joubert syndrome 35 is associated with mutations in the ARL3 gene on chromosome 10.

The ARL3 protein participates in RP2 activates the GTPase activity of ARL3, RP2:ARL3:GDP:UNC119B dissociates, and Myristoylated NPHP3 translocates into the ciliary membrane pathways.

ARL3 is classified as a druggable target with score 7.5.

Genetic testing for ARL3 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 7 always present features, 2 common features.

No clinical trials have been registered for Joubert syndrome 35.

4 publications have been identified in PubMed for Joubert syndrome 35. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (25%), and Gene Therapy / Novel Therapeutics (25%).

Recent Publications

• Buianova AA (2025). [PMID: 40189573](https://pubmed.ncbi.nlm.nih.gov/40189573/). *Neurological research and practice*. [Case Report / Case Series]

• Shankar M (2025). [PMID: 40896634](https://pubmed.ncbi.nlm.nih.gov/40896634/). *Indian journal of nephrology*. [Case Report / Case Series]

• Hakeem A (2025). [PMID: 39781470](https://pubmed.ncbi.nlm.nih.gov/39781470/). *International journal of biological sciences*. [Basic Science / Preclinical]

• Gana S (2024). [PMID: 39626953](https://pubmed.ncbi.nlm.nih.gov/39626953/). *Journal of medical genetics*. [Gene Therapy / Novel Therapeutics]