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Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene.
Features include always present findings: Global developmental delay, Oculomotor apraxia, and Molar tooth sign on MRI; and common findings: Ataxia, Generalized hypotonia, and Abnormal electroretinogram. 7 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 2 | Global developmental delay, Ataxia |
CEP104 encodes centrosomal protein 104 (925 aa). Required for ciliogenesis and for structural integrity at the ciliary tip Highest expression in Artery Tibial (20.4 TPM) and Testis (19.9 TPM).
Joubert syndrome 25 is associated with mutations in the CEP104 gene on chromosome 1.
CEP104 is classified as a druggable target with score 0.0.
Genetic testing for CEP104 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 3 always present features, 3 common features.
No clinical trials have been registered for Joubert syndrome 25.
12 publications have been identified in PubMed for Joubert syndrome 25. Research spans Case Report / Case Series (33%), Epidemiology / Natural History (33%), and Basic Science / Preclinical (25%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 4 | 33% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:49 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Joubert syndrome 25
Eyes
1 |
Oculomotor apraxia |
Muscles | 1 | Generalized hypotonia |
4 |
33% |
Laboratory research | 3 | 25% |
Research summaries | 1 | 8% |
Mański Ł (2026). [PMID: 42122953](https://pubmed.ncbi.nlm.nih.gov/42122953/). *J Clin Med*. [Epidemiology / Natural History]
Mański Ł (2026). [PMID: 42073030](https://pubmed.ncbi.nlm.nih.gov/42073030/). *Children (Basel)*. [Case Report / Case Series]
Alafghani R (2026). [PMID: 41965849](https://pubmed.ncbi.nlm.nih.gov/41965849/). *Hum Genomics*. [Epidemiology / Natural History]
Saunders HAJ (2025). [PMID: 39856351](https://pubmed.ncbi.nlm.nih.gov/39856351/). *Nature structural & molecular biology*. [Basic Science / Preclinical]
Mahajan D (2025). [PMID: 40707593](https://pubmed.ncbi.nlm.nih.gov/40707593/). *Scientific reports*. [Case Report / Case Series]
Betz C (2025). [PMID: 40170356](https://pubmed.ncbi.nlm.nih.gov/40170356/). *HGG advances*. [Basic Science / Preclinical]
Fang X (2024). [PMID: 39076169](https://pubmed.ncbi.nlm.nih.gov/39076169/). *Frontiers in genetics*. [Epidemiology / Natural History]
Montero Torres JA (2024). [PMID: 39101024](https://pubmed.ncbi.nlm.nih.gov/39101024/). *Radiology case reports*. [Basic Science / Preclinical]
Deconte D (2024). [PMID: 39063141](https://pubmed.ncbi.nlm.nih.gov/39063141/). *International journal of molecular sciences*. [Review / Meta-Analysis]
Yen VTH (2024). [PMID: 39165313](https://pubmed.ncbi.nlm.nih.gov/39165313/). *Radiology case reports*. [Case Report / Case Series]