Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene.
Features include always present findings: Hyperventilation, Hypertonia, Absent speech, and Delayed ability to walk and others; and common findings: Occipital encephalocele. 18 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 4 | Absent speech, Global developmental delay, Ataxia |
ARL13B encodes ARF like GTPase 13B (428 aa). Cilium-specific protein required to control the microtubule-based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Highest expression in Nerve Tibial (13.9 TPM) and Cells Cultured fibroblasts (12.6 TPM).
Joubert syndrome 8 is associated with mutations in the ARL13B gene on chromosome 3.
The ARL13B protein participates in Misfolded ARL13B, PolyUb-Misfolded ARL13B, and Ub-Misfolded ARL13B pathways.
ARL13B is classified as a druggable target with score 0.0.
Genetic testing for ARL13B is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Joubert syndrome 8 has been reported in the published literature.
Phenotype severity distribution: 15 always present features, 1 common feature.
No clinical trials have been registered for Joubert syndrome 8.
11 publications have been identified in PubMed for Joubert syndrome 8. Research spans Basic Science / Preclinical (45%), Case Report / Case Series (36%), and Diagnostic / Biomarker (9%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 5 | 45% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Joubert syndrome 8
Eyes
4 |
Pigmentary retinopathy, Ptosis, Oculomotor apraxia |
Muscles | 2 | Low muscle tone (hypotonia), Generalized hypotonia |
Digestive system | 2 | Enlarged liver (hepatomegaly), Prolonged neonatal jaundice |
Pregnancy and birth | 1 | Prolonged neonatal jaundice |
Age of onset: at birth.
4 |
36% |
Testing and diagnosis research | 1 | 9% |
Research summaries | 1 | 9% |
Ganter GK (2026). [PMID: 41490189](https://pubmed.ncbi.nlm.nih.gov/41490189/). *Brain*. [Review / Meta-Analysis]
Hakeem A (2025). [PMID: 39781470](https://pubmed.ncbi.nlm.nih.gov/39781470/). *International journal of biological sciences*. [Basic Science / Preclinical]
Mahajan D (2025). [PMID: 40707593](https://pubmed.ncbi.nlm.nih.gov/40707593/). *Scientific reports*. [Basic Science / Preclinical]
Jones N (2025). [PMID: 41064626](https://pubmed.ncbi.nlm.nih.gov/41064626/). *Case reports in nephrology and dialysis*. [Basic Science / Preclinical]
Yang Q (2025). [PMID: 41317100](https://pubmed.ncbi.nlm.nih.gov/41317100/). *Molecular genetics & genomic medicine*. [Case Report / Case Series]
DeCaen PG (2025). [PMID: 40227694](https://pubmed.ncbi.nlm.nih.gov/40227694/). *Journal of cellular physiology*. [Diagnostic / Biomarker]
Peeters H (2025). [PMID: 40836900](https://pubmed.ncbi.nlm.nih.gov/40836900/). *FEBS letters*. [Case Report / Case Series]
Crockett A (2025). [PMID: 40721319](https://pubmed.ncbi.nlm.nih.gov/40721319/). *The Journal of neuroscience : the official journal of the Society for Neuroscience*. [Case Report / Case Series]
Furuta Y (2025). [PMID: 40710848](https://pubmed.ncbi.nlm.nih.gov/40710848/). *Reports (MDPI)*. [Case Report / Case Series]
Lin Z (2024). [PMID: 38219074](https://pubmed.ncbi.nlm.nih.gov/38219074/). *Journal of cellular physiology*. [Basic Science / Preclinical]