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Features include always present findings: Molar tooth sign on MRI, Intellectual disability, Superior cerebellar dysplasia, and Global developmental delay; and very common findings: Abnormal eye movements (abnormality of eye movement). 30 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 5 | Seizure, Enlarged brain ventricles (ventriculomegaly), Intellectual disability |
ARMC9 encodes armadillo repeat containing 9 (818 aa). Involved in ciliogenesis. It is required for appropriate acetylation and polyglutamylation of ciliary microtubules, and regulation of cilium length. Highest expression in Esophagus Muscularis (22.4 TPM) and Uterus (18.0 TPM).
Joubert syndrome 30 is caused by mutations in the ARMC9 gene on chromosome 2.
ARMC9 is classified as a druggable target with score 0.0.
Genetic testing for ARMC9 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Joubert syndrome 30 has been reported in the published literature.
Phenotype severity distribution: 4 always present features, 1 very common feature, 1 common feature.
No clinical trials have been registered for Joubert syndrome 30.
14 publications have been identified in PubMed for Joubert syndrome 30. Research spans Case Report / Case Series (36%), Basic Science / Preclinical (29%), and Review / Meta-Analysis (21%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 5 | 36% |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:01 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Joubert syndrome 30
Eyes |
4 |
Retinal dystrophy, Abnormal eye movements (abnormality of eye movement), Optic nerve hypoplasia |
Muscles | 2 | Shrinkage of the cerebellum (cerebellar atrophy), Low muscle tone (hypotonia) |
Head and neck | 2 | Thin upper lip vermilion, High palate |
Arms and legs | 2 | Postaxial hand polydactyly, 2-3 toe syndactyly |
Lungs and breathing | 1 | Apnea |
4 |
29% |
Research summaries | 3 | 21% |
Testing and diagnosis research | 1 | 7% |
Disease patterns and progression | 1 | 7% |
Khan AO (2026). [PMID: 41812909](https://pubmed.ncbi.nlm.nih.gov/41812909/). *J AAPOS*. [Case Report / Case Series]
Saunders HAJ (2025). [PMID: 39856351](https://pubmed.ncbi.nlm.nih.gov/39856351/). *Nature structural & molecular biology*. [Basic Science / Preclinical]
Shankarappa B (2025). [PMID: 39911166](https://pubmed.ncbi.nlm.nih.gov/39911166/). *Molecular syndromology*. [Basic Science / Preclinical]
He K (2025). [PMID: 39636239](https://pubmed.ncbi.nlm.nih.gov/39636239/). *The Journal of cell biology*. [Review / Meta-Analysis]
Tran AM (2025). [PMID: 40537162](https://pubmed.ncbi.nlm.nih.gov/40537162/). *Neonatal network : NN*. [Review / Meta-Analysis]
Karuntu JS (2025). [PMID: 39733931](https://pubmed.ncbi.nlm.nih.gov/39733931/). *Progress in retinal and eye research*. [Review / Meta-Analysis]
Shankar M (2025). [PMID: 40896634](https://pubmed.ncbi.nlm.nih.gov/40896634/). *Indian journal of nephrology*. [Case Report / Case Series]
Aung SWKH (2025). [PMID: 40462298](https://pubmed.ncbi.nlm.nih.gov/40462298/). *Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry*. [Case Report / Case Series]
Taşdemir Ü (2025). [PMID: 39275886](https://pubmed.ncbi.nlm.nih.gov/39275886/). *Journal of clinical ultrasound : JCU*. [Epidemiology / Natural History]
Lo CH (2024). [PMID: 38949024](https://pubmed.ncbi.nlm.nih.gov/38949024/). *The Journal of clinical investigation*. [Basic Science / Preclinical]