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Features include always present findings: Postaxial polydactyly, Global developmental delay, Low muscle tone (hypotonia), and Molar tooth sign on MRI and others; and common findings: Optic nerve hypoplasia and Oculomotor apraxia.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 3 | Global developmental delay, Depressed nasal bridge, Intellectual disability |
IFT74 encodes intraflagellar transport 74 (600 aa). Component of the intraflagellar transport (IFT) complex B: together with IFT81, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Highest expression in Testis (49.7 TPM) and Thyroid (23.0 TPM).
Joubert syndrome 40 is associated with mutations in the IFT74 gene on chromosome 9.
IFT74 is classified as a druggable target with score 0.0.
Genetic testing for IFT74 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Joubert syndrome 40 has been reported in the published literature.
Phenotype severity distribution: 8 always present features, 2 common features.
No clinical trials have been registered for Joubert syndrome 40.
18 publications have been identified in PubMed for Joubert syndrome 40. Research spans Case Report / Case Series (39%), Basic Science / Preclinical (22%), and Review / Meta-Analysis (17%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 7 | 39% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC
Online Mendelian Inheritance in Man
Common questions about Joubert syndrome 40
Eyes |
2 |
Optic nerve hypoplasia, Oculomotor apraxia |
Muscles | 1 | Low muscle tone (hypotonia) |
4 |
22% |
Research summaries | 3 | 17% |
Disease patterns and progression | 2 | 11% |
Testing and diagnosis research | 1 | 6% |
New treatment approaches | 1 | 6% |
Alafghani R (2026). [PMID: 41965849](https://pubmed.ncbi.nlm.nih.gov/41965849/). *Hum Genomics*. [Epidemiology / Natural History]
Kovalskaia VA (2026). [PMID: 42271513](https://pubmed.ncbi.nlm.nih.gov/42271513/). *Hum Genomics*. [Basic Science / Preclinical]
Mański Ł (2026). [PMID: 42073030](https://pubmed.ncbi.nlm.nih.gov/42073030/). *Children (Basel)*. [Case Report / Case Series]
Casteleyn T (2025). [PMID: 41148001](https://pubmed.ncbi.nlm.nih.gov/41148001/). *Prenatal diagnosis*. [Epidemiology / Natural History]
Türk S (2025). [PMID: 42044428](https://pubmed.ncbi.nlm.nih.gov/42044428/). *Turk Arch Pediatr*. [Basic Science / Preclinical]
Li G (2025). [PMID: 40007573](https://pubmed.ncbi.nlm.nih.gov/40007573/). *Biochemistry and biophysics reports*. [Basic Science / Preclinical]
Tedesco MG (2025). [PMID: 40428346](https://pubmed.ncbi.nlm.nih.gov/40428346/). *Genes*. [Diagnostic / Biomarker]
Solijon KLK (2025). [PMID: 39849212](https://pubmed.ncbi.nlm.nih.gov/39849212/). *Journal of neural transmission (Vienna, Austria : 1996)*. [Case Report / Case Series]
Kiraz A (2025). [PMID: 40448720](https://pubmed.ncbi.nlm.nih.gov/40448720/). *Neurogenetics*. [Gene Therapy / Novel Therapeutics]
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]