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Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene.
Features include always present findings: Global developmental delay, Low muscle tone (hypotonia), and Molar tooth sign on MRI; and common findings: Oculomotor apraxia. 15 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 3 | Global developmental delay, Ataxia, Intellectual disability |
CEP41 encodes centrosomal protein 41 (373 aa). Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating in the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium Highest expression in Testis (20.7 TPM) and Minor Salivary Gland (10.3 TPM).
Joubert syndrome 15 is associated with mutations in the CEP41 gene on chromosome 7.
CEP41 is classified as a druggable target (Druggable Genome category) with score 0.0.
Genetic testing for CEP41 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 3 always present features, 1 common feature.
No clinical trials have been registered for Joubert syndrome 15.
22 publications have been identified in PubMed for Joubert syndrome 15. Research spans Case Report / Case Series (36%), Basic Science / Preclinical (32%), and Review / Meta-Analysis (27%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 8 | 36% |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 4:17 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Joubert syndrome 15
Eyes
3 |
Oculomotor apraxia, Damage to the retina (retinopathy), Retinal dystrophy |
Muscles | 2 | Low muscle tone (hypotonia), Generalized hypotonia |
Kidneys and urinary system | 1 | Nephronophthisis |
7 |
32% |
Research summaries | 6 | 27% |
Disease patterns and progression | 1 | 5% |
Mański Ł (2026). [PMID: 42073030](https://pubmed.ncbi.nlm.nih.gov/42073030/). *Children (Basel)*. [Case Report / Case Series]
Mański Ł (2026). [PMID: 42122953](https://pubmed.ncbi.nlm.nih.gov/42122953/). *J Clin Med*. [Epidemiology / Natural History]
Hasenpusch-Theil K (2026). [PMID: 42082754](https://pubmed.ncbi.nlm.nih.gov/42082754/). *Mol Psychiatry*. [Basic Science / Preclinical]
Taşdemir Ü (2025). [PMID: 39275886](https://pubmed.ncbi.nlm.nih.gov/39275886/). *Journal of clinical ultrasound : JCU*. [Case Report / Case Series]
He K (2025). [PMID: 39636239](https://pubmed.ncbi.nlm.nih.gov/39636239/). *The Journal of cell biology*. [Basic Science / Preclinical]
Hakeem A (2025). [PMID: 39781470](https://pubmed.ncbi.nlm.nih.gov/39781470/). *International journal of biological sciences*. [Review / Meta-Analysis]
Li C (2025). [PMID: 40288647](https://pubmed.ncbi.nlm.nih.gov/40288647/). *The Journal of biological chemistry*. [Basic Science / Preclinical]
Ju-Wang JD (2025). [PMID: 39817683](https://pubmed.ncbi.nlm.nih.gov/39817683/). *Therapeutic advances in respiratory disease*. [Review / Meta-Analysis]
Mahajan D (2025). [PMID: 40707593](https://pubmed.ncbi.nlm.nih.gov/40707593/). *Scientific reports*. [Review / Meta-Analysis]
Buianova AA (2025). [PMID: 40189573](https://pubmed.ncbi.nlm.nih.gov/40189573/). *Neurological research and practice*. [Basic Science / Preclinical]