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Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene.
Features include always present findings: Abnormal eye movements (abnormality of eye movement) and Global developmental delay; and common findings: Tachypnea and Apnea. 9 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 1 | Abnormal eye movements (abnormality of eye movement) |
KIAA0586 encodes KIAA0586 (1,533 aa). Required for ciliogenesis and sonic hedgehog/SHH signaling. Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. Highest expression in Testis (16.6 TPM) and Cells EBV-transformed lymphocytes (8.7 TPM).
Joubert syndrome 23 is associated with mutations in the KIAA0586 gene on chromosome 14.
KIAA0586 is classified as a druggable target with score 0.0.
Genetic testing for KIAA0586 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Joubert syndrome 23 has been reported in the published literature.
Phenotype severity distribution: 2 always present features, 2 common features.
No clinical trials have been registered for Joubert syndrome 23.
16 publications have been identified in PubMed for Joubert syndrome 23. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (27%), and Review / Meta-Analysis (20%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 6 | 40% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:41 AM UTC
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Joubert syndrome 23
1 |
Inner ear hearing loss (sensorineural hearing impairment) |
Brain and nerves | 1 | Global developmental delay |
Lungs and breathing | 1 | Apnea |
Age of onset: at birth.
4 |
27% |
Research summaries | 3 | 20% |
Testing and diagnosis research | 1 | 7% |
Disease patterns and progression | 1 | 7% |
Alafghani R (2026). [PMID: 41965849](https://pubmed.ncbi.nlm.nih.gov/41965849/). *Hum Genomics*. [Epidemiology / Natural History]
Ju-Wang JD (2025). [PMID: 39817683](https://pubmed.ncbi.nlm.nih.gov/39817683/). *Therapeutic advances in respiratory disease*. [Review / Meta-Analysis]
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*. [Review / Meta-Analysis]
Taudien JE (2025). [PMID: 40951761](https://pubmed.ncbi.nlm.nih.gov/40951761/). *Molecular therapy. Nucleic acids*. [Case Report / Case Series]
Lo Giudice M (2025). [PMID: 40565597](https://pubmed.ncbi.nlm.nih.gov/40565597/). *Genes*. [Case Report / Case Series]
D'Abrusco F (2025). [PMID: 39394465](https://pubmed.ncbi.nlm.nih.gov/39394465/). *European journal of human genetics : EJHG*. [Basic Science / Preclinical]
Bhate M (2025). [PMID: 40190368](https://pubmed.ncbi.nlm.nih.gov/40190368/). *Neuro-ophthalmology (Aeolus Press)*. [Case Report / Case Series]
Jean MM (2025). [PMID: 41073425](https://pubmed.ncbi.nlm.nih.gov/41073425/). *NPJ genomic medicine*. [Case Report / Case Series]
Shen Y (2025). [PMID: 41020477](https://pubmed.ncbi.nlm.nih.gov/41020477/). *Cytoskeleton (Hoboken, N.J.)*. [Diagnostic / Biomarker]
Casteleyn T (2025). [PMID: 41148001](https://pubmed.ncbi.nlm.nih.gov/41148001/). *Prenatal diagnosis*. [Case Report / Case Series]
AI-curated news mentioning Joubert syndrome 23
Updated Aug 26, 2026
Recent research highlights the skeletal complications associated with Joubert syndrome, revealing a spectrum from low bone mineral density to severe secondary osteoporosis. This study underscores the need for monitoring bone health in affected individuals.
A case study highlights a 7-year-old girl with Joubert Syndrome and an NPC1 mutation, presenting with neuromotor developmental delay and ataxia. This case contributes to the understanding of the clinical manifestations associated with these rare genetic conditions.